Genomics England
GMS Panels
Panels
Genes and Entities

Childhood onset leukodystrophy (Version: )

There is a more recent signed-off version of this panel
Relevant disorders: White matter disorders - childhood onset, R109
This panel contains these 4 panels:
  • Intellectual disability
  • White matter disorders and cerebral calcification - narrow panel
  • Mitochondrial disorders
  • Likely inborn error of metabolism
Signed off date: 7 Aug 2024
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
See this panel in PanelApp
1904 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
AAAS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
AARS
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
AARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AARS2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AASS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AASS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABAT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABAT
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCA1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCA2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCB11
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCB4
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ABCB7
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ABCB7
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ABCC9
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ1_24_MOI, Q1_24_NHS_review
Green
ABCD1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
ABCD1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ABCD1
White matter disorders and cerebral calcification - narrow panel
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ABCD4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCD4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCG5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCG8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD16A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD16A
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACACA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACACA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAD8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAD9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAD9
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAD9
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
ACADSB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADVL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACBD5
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACER3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACER3
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACO2
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ACO2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ACO2
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ACOX1
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
ACOX1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACOX1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
ACP5
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACSF3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACSL4
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
ACTB
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTG1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTL6A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
ACTL6B
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ACY1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACY1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAM22
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAR
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADAR
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADAR
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADARB1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAT3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADD1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADD3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADGRG1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADK
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADNP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ADSL
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADSL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AFF2
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOthernucleotide-repeat-expansion
Green
AFF3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
AFF4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
AFG3L2
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
AFG3L2
Mitochondrial disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
AGA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGK
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGO1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AGO2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
AGPS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGTPBP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGXT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AHCY
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
AHCY
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
AHDC1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
AHI1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AIFM1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
AIFM1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
AIFM1
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
AIFM1
White matter disorders and cerebral calcification - narrow panel
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
AIMP1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AIMP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AKR1D1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AKT3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
ALAD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALAS2
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ALDH18A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ALDH18A1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ALDH3A2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH3A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH3A2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH4A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH4A1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH5A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH5A1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH6A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH7A1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH7A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDOA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDOB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG11
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG11
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG12
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG13
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ALG14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG9
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALKBH8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALMS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALPL
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
AMACR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMER1
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
AMN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMPD2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANK2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ANK3
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ANKRD11
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ANKRD17
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ANO10
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AQ2_24_demote_amber, Q2_24_expert_review
Green
ANO10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP1G1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AP1S1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP1S2
White matter disorders and cerebral calcification - narrow panel
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
AP1S2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
AP2M1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
AP3B1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP3B2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP4B1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP4B1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP4E1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP4M1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP4S1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APC2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APOA1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
APOA5
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
APOB
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
APOC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APOE
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
APOPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
APOPT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
APOPT1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
APOPT1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
APRT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APTX
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APTX
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARCN1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARF1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARF3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
ARFGEF1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARFGEF2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARG1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARHGEF9
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ARID1A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARID1B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARID2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ARL13B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARL6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARMC9
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSA
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSE
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
ARSE
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
ARV1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARX
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anucleotide-repeat-expansion
Green
ASAH1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASAH1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASH1L
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ASL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASL
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASNS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASPA
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASPA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASPM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASXL1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ASXL2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ASXL3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATAD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
ATAD3A
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ATAD3A
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ATAD3A
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ATG7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATIC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATIC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATN1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
ATP13A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP13A2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP1A1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP1A2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP1A3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP2B1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP5A1
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5D
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5D
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5E
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5E
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5G3
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
ATP5G3
Mitochondrial disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
ATP5O
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5O
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP6AP1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP6AP2
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP6V0A1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP6V0A2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V0A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V0C
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP6V1A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP6V1B2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP7A
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP7A
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP7B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP8A2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP8B1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ATP9A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATPAF2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
ATPAF2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATR
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATRX
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
AUH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AUH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AUH
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AUTS2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
B3GALNT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GALNT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GALT6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GAT3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GLCT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GLCT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALNT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALNT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALT7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALT7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B9D2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BAAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BAP1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BBS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS10
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS12
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS9
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCAP31
White matter disorders and cerebral calcification - narrow panel
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BCAP31
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BCAS3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCAT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
BCKDHA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDHA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDHB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDHB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDK
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCL11A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BCL11B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BCOR
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BCS1L
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCS1L
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCS1L
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCS1L
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BICRA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BLM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BLOC1S1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BLOC1S1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BMP4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOLA3
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOLA3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOLA3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOLA3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BPTF
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BRAF
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BRAT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRD4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BRF1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRPF1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BRSK2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
BRWD3
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BSCL2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BTD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BTD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BTD
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AQ2_24_demote_amber, Q2_24_expert_review
Green
BUB1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BUB1B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C12orf4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C12orf57
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C12orf65
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C12orf65
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C12orf65
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C19orf12
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
C19orf70
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C19orf70
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C1QBP
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C1QBP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C2CD3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C2orf69
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
C2orf69
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
C2orf69
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
C5orf42
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CA2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CA5A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CA5A
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CA8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1A
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CACNA1B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1C
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CACNA1D
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CACNA1E
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CACNA1G
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
CACNA1I
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
CACNA2D1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAMK2A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
CAMK2B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CAMK4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
CAMTA1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CAPN15
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAPRIN1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CASK
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CASP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAT
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CBL
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CBS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CBS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CC2D1A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CC2D2A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCBE1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC115
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC22
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CCDC32
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CCDC47
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CCDC82
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CCDC88C
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCND2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CDC42
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CDC6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH11
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CDK10
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDK13
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CDK16
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
CDK19
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CDK5RAP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDK8
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDKL5
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CDON
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CELF2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
CENPF
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CENPJ
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP104
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP120
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP135
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP152
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP290
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP41
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP55
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP57
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP83
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP85L
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CHAMP1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHCHD10
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHCHD10
Mitochondrial disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHD4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHD5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD7
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD8
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHKA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHKB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHKB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHMP1A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHST14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHST3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHST6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHSY1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CIC
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CIC
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CISD2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CIT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CKAP2L
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLCN2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLCN3
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
CLCN4
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CLCN6
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CLDN11
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CLDN11
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CLDN16
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CLDN5
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CLN3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
CLPB
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CLPB
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CLPB
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CLPP
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLPP
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLPP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLTC
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNKSR2
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CNNM2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CNNM2
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CNOT1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNOT2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNOT3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNOT9
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CNTNAP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CNTNAP1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CNTNAP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COA6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COA6
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
COA7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COA7
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COA7
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COASY
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL4A1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
COL4A1
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
COL4A2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
COL4A3BP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
COLEC11
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COLGALT1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COPB2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
COQ2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ4
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ6
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ7
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8A
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8A
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8B
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ9
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
COQ9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX10
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX10
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX10
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX11
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX11
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX15
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX15
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX15
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX15
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX20
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX20
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX5A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX5A
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX6A1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX6A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX6A2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX6B1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX6B1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX7B
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
COX7B
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPE
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPLX1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPOX
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CPS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPT1A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPT2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CRADD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRB2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CREBBP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CRLS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRLS1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSDE1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
CSF1R
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CSGALNACT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSNK1G1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
CSNK2A1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CSNK2B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CSPP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSTB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOthernucleotide-repeat-expansion
Green
CTBP1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
CTC1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTCF
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CTDP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTNNA2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTNNB1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CTNND1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CTNS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTR9
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CTSA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSF
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTU2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUBN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUL3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CUL4B
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CUX1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CUX2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CWC27
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CWF19L1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CXorf56
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation, new-gene-name, gene-checked
Green
CYB5R3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYC1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYFIP2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CYP27A1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP27A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP2U1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP7B1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP7B1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
D2HGDH
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
D2HGDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
D2HGDH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DAG1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DAGLA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DARS
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DARS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DARS2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DARS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DBH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DBT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DBT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCAF17
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCAF17
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCHS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCPS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCX
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DCXR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDB1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDB2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDHD2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX11
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX23
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDX3X
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)loss-of-function (truncating variants and curated list of variants)N/A
Green
DDX59
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX6
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DEAF1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DEGS1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DEGS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DEPDC5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DGUOK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DGUOK
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DGUOK
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR24
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR24
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHDDS
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DHFR
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHFR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHODH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHPS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHTKD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHTKD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHX30
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DHX37
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI, Q1_24_NHS_review
Green
DHX9
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DIAPH1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DIS3L2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, deletions
Green
DKC1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DLAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLAT
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLD
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLG3
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DLG4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicroduplication
Green
DLL1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DMD
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial, Skewed X-inactivation
Green
DMPK_CTG
Likely inborn error of metabolism
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
DMPK_CTG
Mitochondrial disorders
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
DMPK_CTG
Intellectual disability
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
DMXL2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNA2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DNA2
Mitochondrial disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DNAJC12
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC19
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC19
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC5
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DNM1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DNM1L
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNM1L
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNM1L
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DNM2
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNM2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNMT3A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
DNMT3B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOCK3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOCK6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOCK7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOHH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOLK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOLK
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPAGT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPAGT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPF2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypedominant-negative
Green
DPH1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPH5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYD
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Apharmacogenetics
Green
DPYS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYSL5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DTYMK
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYNC1H1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DYRK1A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EARS2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EARS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EBF3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EBP
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
EBP
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ECHS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ECHS1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EDEM3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EDEM3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EED
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EEF1A2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EFTUD2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EHBP1L1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
EHMT1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EIF2AK2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
EIF2AK3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B3
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B4
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B5
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2S3
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Loss-of-function variants DO NOT cause this phenotypeN/A
Green
EIF3F
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF4A2
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
EIF4A3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
EIF5A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ELAC2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELAC2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELAC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELOVL1
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
ELOVL4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMC1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
EMC10
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EML1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMX2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ENO3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ENTPD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ENTPD1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EOGT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EP300
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EPG5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPG5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPM2A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPRS
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ERBB4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ERCC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC6
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
ERCC6L2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC8
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
ERCC8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERI1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERLIN2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ESAM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ESAM
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ESCO2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFDH
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFDH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFDH
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETHE1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETHE1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETHE1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXT1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EXT2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
EXT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXTL3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EZH2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FA2H
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FA2H
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM126A
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
FAM126A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
FAM20C
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM50A
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
FAR1
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
FARS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FARSA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FARSA
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FASTKD2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FASTKD2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAT4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBRSL1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
FBXL3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXL4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXL4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXL4
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXO11
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FBXO28
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FBXO31
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
FBXW11
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FBXW7
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FDX2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FDX2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FDXR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FDXR
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FECH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FGD1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FGF12
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
FGFR2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FH
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FIG4
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FIG4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FILIP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKRP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKRP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKTN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKTN
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FLAD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FLAD1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FLVCR2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FLVCR2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FMN2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FMO3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FMR1
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Othernucleotide-repeat-expansion
Green
FMR1_CGG
Intellectual disability
STR		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASTR
Green
FOLR1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOLR1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOLR1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXG1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FOXP1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FOXP2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FOXRED1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXRED1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXRED1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FRMD5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FRMPD4
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
FTCD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Angs-false-positive-region
Green
FTCD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FTSJ1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FUCA1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUCA1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUCA1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUT8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUT8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FXN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
FXN_GAA
Likely inborn error of metabolism
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
G6PC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
G6PC3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GABBR2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
GABRA1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRA2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
GABRA5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRB2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRB3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRD
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
GABRG2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRG2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GAD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALC
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALE
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALE
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNT3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAMT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAMT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GARS
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
GARS
Mitochondrial disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Atreatable, new-gene-name
Green
GATAD2B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GATM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GATM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GBA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
GBE1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GBE1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCDH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCH1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GCH1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GCLC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCSH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCSH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GDAP1
Mitochondrial disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
GDAP1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
GDI1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GEMIN5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFAP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GFAP
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
GFER
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFER
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFER
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GIF
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
GJA1
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GJB1
White matter disorders and cerebral calcification - narrow panel
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
GJC2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GJC2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GK
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GK
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GLA
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
GLB1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLB1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLB1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLDC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLDC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLI2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GLI3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ2_24_demote_amber, Q2_24_NHS_review
Green
GLIS3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLRA1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GLRA2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AAutism Spectrum Disorder
Green
GLRX5
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLRX5
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLRX5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/ASTR, watchlist_moi
Green
GLUD1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
GLUL
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLUL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLYCTK
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
GLYCTK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GM2A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GM2A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMPPA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMPPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMPPB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMPPB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNAI1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNAO1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNAS
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
GNB1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNB2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GNB5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNE
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GNMT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPAT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPTAB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPTAB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPTG
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPTG
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GORAB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPAA1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPC3
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GPC4
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
GPD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPHN
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GPIHBP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRHPR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRIA1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypewatchlist_moi
Green
GRIA2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIA3
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GRIA4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRID2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRIK2
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRIN1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRIN2A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIN2B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIN2D
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRM1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRM7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GSS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTF2E2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTF2H5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GUSB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GUSB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GYG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GYS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GYS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
H3F3A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
H3F3B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
HAAO
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HACE1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHB
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HAMP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HCCS
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HCCS
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HCCS
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HCFC1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HCFC1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HCN1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HDAC4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HDAC8
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HECTD4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
HECW2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
HEPACAM
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
HEPACAM
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HERC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HERC2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HESX1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HEXA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HFE
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HFE2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
HGD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HGSNAT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HGSNAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIBCH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIBCH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIBCH
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HID1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIKESHI
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIST1H1E
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
HIST1H4C
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypenew-gene-name
Green
HIST1H4E
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypenew-gene-name
Green
HIVEP2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HK1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypemissense
Green
HLCS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HLCS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HLCS
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMBS
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HMGB1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
HMGCL
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMGCL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMGCS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HNMT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HNRNPH1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HNRNPH2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HNRNPK
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HNRNPR
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNRNPU
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HOGA1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HOXA1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HPD
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HPD
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HPDL
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
HPDL
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
HPRT1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HPRT1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HPS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HRAS
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HS2ST1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSD17B10
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HSD17B10
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HSD17B10
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AQ1_24_MOI
Green
HSD17B4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSD17B4
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSD17B4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSD3B7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSPA9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSPD1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
HSPD1
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HSPD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSPD1
Mitochondrial disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
HTRA2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HTRA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HTRA2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HUWE1
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HYAL1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
IARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IBA57
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IBA57
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IBA57
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IBA57
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IDH2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IDH2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IDH3A
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IDS
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
IDS
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
IDUA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IDUA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IER3IP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IER3IP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFIH1
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
IFIH1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
IFT172
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IGF1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IGF1R
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IKBKG
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
IL1RAPL1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
IMPDH2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
INPP5E
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INPP5K
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INTS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INTS11
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IQSEC2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
IRF2BPL
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IRX5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37390-Loss
Intellectual disability
5p15 terminal (Cri du chat syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37392-Gain
Intellectual disability
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37392-Loss
Intellectual disability
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37393-Gain
Intellectual disability
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37394-Loss
Intellectual disability
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37396-Loss
Intellectual disability
15q24 recurrent region (A-D) (includes SIN3A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37397-Gain
Intellectual disability
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37397-Loss
Intellectual disability
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37400-Gain
Intellectual disability
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37400-Loss
Intellectual disability
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37401-Loss
Intellectual disability
11p13 (WAGR syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37404-Gain
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37404-Loss
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37405-Loss
Intellectual disability
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37406-Loss
Intellectual disability
16p13.3 region (includes CREBBP) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37408-Loss
Intellectual disability
2p15p16.1 region (includes BCL11A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37411-Loss
Intellectual disability
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37415-Gain
Intellectual disability
16p13.11 recurrent region (includes MYH11) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37415-Loss
Intellectual disability
16p13.11 recurrent region (includes MYH11) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37418-Gain
Intellectual disability
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37418-Loss
Intellectual disability
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37420-Loss
Intellectual disability
17q21.3 recurrent region (includes KANSL1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37421-Gain
Intellectual disability
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37421-Loss
Intellectual disability
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37423-Gain
Intellectual disability
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37423-Loss
Intellectual disability
8p23.1 recurrent region (includes GATA4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37424-Loss
Intellectual disability
10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37425-Gain
Intellectual disability
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37425-Loss
Intellectual disability
5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37429-Loss
Intellectual disability
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37430-Gain
Intellectual disability
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37430-Loss
Intellectual disability
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37431-Gain
Intellectual disability
17q11.2 recurrent region (includes NF1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37431-Loss
Intellectual disability
17q11.2 recurrent region (includes NF1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37432-Gain
Intellectual disability
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37432-Loss
Intellectual disability
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37433-Gain
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37433-Loss
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37434-Loss
Intellectual disability
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37439-Gain
Intellectual disability
Xq28 recurrent region (includes GDI1) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ISCA-37440-Loss
Likely inborn error of metabolism
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37440-Loss
Mitochondrial disorders
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37440-Loss
Intellectual disability
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37441-Loss
Intellectual disability
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37443-Loss
Intellectual disability
3q29 recurrent region (includes DLG1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37446-Gain
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37446-Loss
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37468-Loss
Intellectual disability
Xp11.23 region (includes MAOA and MAOB) Loss
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ISCA-37478-Gain
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37478-Loss
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37486-Loss
Intellectual disability
16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37493-Loss
Intellectual disability
1q43q44 terminal region (includes AKT3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37494-Gain
Intellectual disability
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ISCA-37494-Loss
Intellectual disability
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ISCA-37495-Loss
Intellectual disability
2q11.2 recurrent region (includes ARID5A, TMEM127) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37500-Loss
Intellectual disability
15q25.2 recurrent region (LCR B-C, proximal) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37501-Loss
Intellectual disability
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46290-Gain
Intellectual disability
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
region
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ISCA-46292-Loss
Intellectual disability
22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46295-Loss
Intellectual disability
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46297-Loss
Intellectual disability
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46299-Gain
Intellectual disability
Xp11.22 region (includes HUWE1) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ISCA-46304-Gain
Intellectual disability
Xq28 region (includes MECP2) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ISCA-46553-Loss
Intellectual disability
3q24 Region (includes ZIC1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46742-Loss
Intellectual disability
7p22.1 region (includes ACTB) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46743-Gain
Intellectual disability
Xq25 region (includes STAG2) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ISCA-46743-Loss
Intellectual disability
Xq25 region (includes STAG2) Loss
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ISCA1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
ISCA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
ISCU
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic
Green
ISCU
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, founder-effect
Green
ISPD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ISPD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ITPA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITPR1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
IVD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IVD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JAM3
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JAM3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JARID2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KANSL1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KARS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KARS
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KAT5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KAT6A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KAT6B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KAT8
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
KCNA2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNB1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNC1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCND2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
KCNH1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNH5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNJ10
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ11
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KCNJ6
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNK3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNK9
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)OtherN/A
Green
KCNMA1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KCNN2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNN3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNQ2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNQ3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNQ5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNT1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNT2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCTD3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
KCTD7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KDM1A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KDM2B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
KDM3B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KDM4B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KDM5A
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KDM5B
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KDM5C
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
KDM6A
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
KDM6B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIAA0391
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIAA0586
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIAA1109
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIAA1161
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
KIDINS220
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF11
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF14
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIF1A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF1BP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIF21B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
KIF2A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF4A
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
KIF5A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF5A
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF5C
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KLF7
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
KLHL20
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
KLHL7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KMT2A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KMT2B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT2C
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KMT2D
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KMT2E
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT5B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KNL1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KPTN
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KRAS
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KYNU
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
L1CAM
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
L2HGDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
L2HGDH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
L2HGDH
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMA1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMA2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMB1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMB1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMC3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMP2
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
LAMP2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
LARGE1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LARGE1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LARP7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LARS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
LARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
LARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LBR
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LCAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LCT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LDHA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LDLR
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
LDLRAP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LETM1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LETM1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LETM1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LHX2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
LIAS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIAS
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIAS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIG3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIG3
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIG4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LINGO4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
LINS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMBRD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMBRD2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
LMF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMNB1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
LMNB1
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
LONP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LONP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LONP1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LPIN1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LPL
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LRP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRPPRC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRPPRC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRPPRC
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LSS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYRM4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYRM4
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYRM7
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYRM7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYRM7
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYRM7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LZTR1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MAB21L1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAB21L2
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MACF1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MADD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAF
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MAGEL2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
MAGT1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MAN1B1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAN1B1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAN2B1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAN2B1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAN2C1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MANBA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MANBA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAOA
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MAOA
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MAP1B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MAP2K1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MAP2K2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MAPK1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MAPK8IP3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAPRE2
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
MARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MASP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAST1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAST4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
MAT1A
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MAT1A
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MBD5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MBOAT7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MBTPS2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MCCC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCCC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCCC2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCCC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCEE
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCM3AP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCOLN1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCOLN1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCOLN1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCPH1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MDH2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MDH2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MDH2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MECP2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MECR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MECR
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED11
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED12
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
MED13
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MED13L
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MED17
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED23
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED25
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
MED27
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MEF2C
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MEF2C
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MEIS2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
METTL23
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
METTL5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
MFF
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFF
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFF
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFN2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MFN2
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MFSD2A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFSD8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFSD8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MGAT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MGAT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MGME1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MGME1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MICU1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
MICU1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MICU1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MID1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MINPP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MIPEP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MIPEP
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MKKS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MKS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLC1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLYCD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLYCD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMAA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMAA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMAB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMAB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMACHC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMACHC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMADHC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMADHC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MN1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MOCS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOGS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOGS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MORC2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MPC1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPDU1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPDU1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPI
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPLKIP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPP5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, new-gene-name
Green
MPV17
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPV17
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRM2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPL3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPL3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPL44
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPL44
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS22
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS22
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS22
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS34
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS34
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS34
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSL3
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MSMO1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSMO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSTO1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI
Green
MSTO1
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI
Green
MT-ATP6
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-ATP6
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ATP8
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ATP8
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-CO1
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-CO1
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-CO2
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-CO2
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-CO3
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-CO3
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-CYB
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-CYB
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-ND1
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-ND1
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND2
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND2
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-ND3
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-ND3
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND4
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND4
Mitochondrial disorders
MITOCHONDRIALN/Agene-therapy-trial, gene-checked
Green
MT-ND4L
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-ND4L
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND5
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND5
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-ND6
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked
Green
MT-ND6
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-RNR1
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-ribosomal
Green
MT-RNR1
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-ribosomal, gene-checked
Green
MT-TA
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TA
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TC
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TC
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TD
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TD
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TE
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TE
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TF
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TF
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TG
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TG
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TH
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TH
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TI
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TI
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TK
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TK
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TL1
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TL1
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TL2
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TL2
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TM
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TM
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TN
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TN
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TP
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TP
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TQ
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TQ
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TR
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TR
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TS1
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TS1
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TS2
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TS2
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TV
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TV
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TW
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TW
Mitochondrial disorders
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TY
Mitochondrial disorders
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TY
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MTFMT
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTFMT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTFMT
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTFMT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFR
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTO1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTO1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTOR
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, missense, somatic
Green
MTPAP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTPAP
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTR
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTRR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTRR
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTSS1L
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
MTTP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MUT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
MUT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
MVK
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MVK
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYCN
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYH10
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
MYO5A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYT1L
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NAA10
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NAA15
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NACC1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
NADK2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NADK2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
NAGA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGLU
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGLU
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NALCN
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
NANS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAPB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NARS
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
NARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXD
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXD
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXE
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXE
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXE
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NBEA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NCDN
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NCKAP1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
NDE1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDP
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NDST1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
NDUFA1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NDUFA1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NDUFA1
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NDUFA10
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA11
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA11
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA12
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA13
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA13
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA4
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA6
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA8
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA9
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF3
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF4
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF5
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF6
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
NDUFAF8
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
NDUFB10
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFB10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFB11
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NDUFB11
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NDUFB3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFB3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFB8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFB8
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFC2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS4
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS4
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS6
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS7
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS7
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEDD4L
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NEMF
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEU1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEU1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEUROD2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NEUROG1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEXMIF
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NF1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NFASC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NFIA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adeletions
Green
NFIX
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NFS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
NFS1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NFU1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NFU1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NFU1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NFU1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NGLY1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NGLY1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHLRC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHS
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NIPBL
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NKAP
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Amissense
Green
NKX2-1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NKX6-2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NLGN3
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NNT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NONO
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NOVA2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NPC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPC2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NR2F1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NR2F2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NR4A2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AAutism Spectrum Disorder
Green
NRAS
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NRCAM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NRROS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NRXN1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
NSD1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NSD2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NSDHL
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NSDHL
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NSRP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NSUN2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NSUN3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NSUN3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NT5C2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NT5C3A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NTNG2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
NTRK1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NTRK2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NUBPL
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUBPL
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUBPL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUBPL
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUDT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP188
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP214
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUS1
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
NUS1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
OAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OCLN
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OCLN
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OCRL
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OCRL
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ODC1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
OFD1
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
OGDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OGDHL
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OGT
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
OPA1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
OPA1
Mitochondrial disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
OPA3
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
OPA3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OPA3
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
OPHN1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OSGEP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTC
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
OTC
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
OTUD5
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OTUD6B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTUD7A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTX2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
OXCT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OXCT1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OXR1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
P4HTM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PABPC1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
Green
PACS1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PACS2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAFAH1B1
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAFAH1B1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PAH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAK1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
PAK3
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PAN2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PANK2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PANK2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PARN
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAX8
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PBX1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PC
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCBD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCDH12
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
PCDH19
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Amosaicism, x-linked-over-dominance, somatic
Green
PCDHGC4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCGF2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PCK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCNT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCSK9
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PCYT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDE4D
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PDGFB
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PDGFRB
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PDGFRB
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PDHA1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
PDHA1
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
PDHA1
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
PDHB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDHB
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDHB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDHX
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDHX
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
PDHX
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDK3
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Loss-of-function variants DO NOT cause this phenotypeN/A
Green
PDP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDP1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDZD8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEPD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEPD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PET100
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PET100
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PET100
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX10
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX10
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX11B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX11B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX12
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX12
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX13
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX13
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX13
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX14
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX16
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX16
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX16
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX19
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX26
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX26
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX26
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX3
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX5
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX6
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PEX6
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PEX6
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
PEX7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PFKM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGK1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PGK1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PGM1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM2L1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHACTR1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PHF21A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adeletions
Green
PHF6
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
PHF8
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PHGDH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHGDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHIP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PHKA1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PHKA2
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PHKB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHKG2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHYH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PI4KA
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PI4KA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIBF1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIDD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGA
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
PIGA
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
PIGB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGC
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGG
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AAutism Spectrum Disorder
Green
PIGK
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGL
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, promoter
Green
PIGN
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGO
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGO
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGQ
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGU
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Amissense
Green
PIGV
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGV
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGW
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIK3CA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, somatic
Green
PIK3R2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PINK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIP5K1C
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PITRM1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PITRM1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PLA2G6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLA2G6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLA2G6
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLAA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLCB1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLK1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PLK4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLP1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PLP1
White matter disorders and cerebral calcification - narrow panel
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PLPBP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLXNA1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PMM2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCA
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCB
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNKP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA8
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPO
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPT1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPT1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POGZ
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
POLA1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
POLG
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLG
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLG
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLG
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLG2
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLG2
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLG2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLR1C
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR1C
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR2A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
POLR3A
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR3A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR3B
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLR3B
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLRMT
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLRMT
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POMGNT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PORCN
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
POU3F2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
POU3F3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPA2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPFIBP1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPFIBP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPIL1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPM1D
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPOX
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PPOX
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PPP1CB
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP1R12A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPP1R15B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPP1R21
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PPP1R3F
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
PPP2CA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP2R1A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPP2R5D
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPP3CA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PQBP1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PRDM13
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRICKLE2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
PRKAG2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRKAR1B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRMT7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRODH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRPF8
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRPS1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PRPS1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PRR12
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRSS12
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRUNE1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSAP
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSAP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSAP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSAT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSMC3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PSMD12
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PSPH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTCD3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTCD3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTCH1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTCHD1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PTDSS1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTEN
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTEN
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTF1A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTPN11
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTPN23
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTPN4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
PTRHD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUF60
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicrodeletion
Green
PUM1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PURA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PUS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUS1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUS1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUS3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUS7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYCR1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYCR1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYCR2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYCR2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYGL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYGM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
QARS
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
QDPR
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QDPR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QRICH1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
QRSL1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QRSL1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB11A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
RAB11B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAB11B
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RAB18
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB23
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB39B
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RAB3GAP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB3GAP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB5C
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
RAC1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAC3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RAD21
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RAF1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RAI1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RALA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RALGAPA1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAP1B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RARB
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RARS
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
RARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
RARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RARS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBBP8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBCK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBL2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBM10
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RBP4
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RBSN
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
RELN
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RERE
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RFT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RFT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RFX3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
RFX4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
RFX7
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RHOBTB2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RIT1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RLIM
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Amissense
Green
RMND1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RMND1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RMND1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2A
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2B
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2C
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2C
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASET2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASET2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNF113A
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
RNF125
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RNF13
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RNF220
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNU7-1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-small-nuclear, gene-checked
Green
RNU7-1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, locus-type-rna-small-nuclear
Green
ROBO1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
ROGDI
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RORA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPGRIP1L
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPIA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPIA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPIA
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPL10
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RPL10
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RPS6KA3
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
RRM2B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RRM2B
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RRM2B
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RRM2B
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RSRC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTEL1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTN4IP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTN4IP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTN4IP1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTTN
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SACS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SACS
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAMD9
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
SAMHD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAMHD1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAMHD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAR1B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SARS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SATB1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SATB2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SBF1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SC5D
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SC5D
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCAF4
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCAF4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCAMP5
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthergene-checked
Green
SCAPER
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCN1A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN2A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN3A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN8A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
SCO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCP2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCP2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCYL1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDCCAG8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHA
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHA
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SDHA
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SDHAF1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHAF1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHAF1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHAF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHB
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHB
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHD
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEC23B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEMA6B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SEPSECS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERAC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERAC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERAC1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SET
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETBP1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETD1A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETD1B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETD2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
SETD5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETX
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SFXN4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SFXN4
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SFXN4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SGPL1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SGSH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SGSH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHANK1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
SHANK2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SHANK3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SHH
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SHMT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHMT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHOC2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SHQ1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SI
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIAH1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SIK1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SIL1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIN3A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SIN3B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
SIX3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SKI
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SKIV2L
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SLC12A2
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC12A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
SLC12A5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC12A6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC13A5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC16A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC16A2
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SLC16A2
White matter disorders and cerebral calcification - narrow panel
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SLC17A5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC17A5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC17A5
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC18A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC1A1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC1A2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC1A4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC20A2
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC22A5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC22A5
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A12
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A12
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A12
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A13
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A15
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A15
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A19
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A20
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A20
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A22
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A22
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A24
Mitochondrial disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC25A26
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A26
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A3
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A32
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
SLC25A32
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Atreatable, gene-checked
Green
SLC25A36
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A38
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A38
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A4
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC25A4
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC25A4
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC25A42
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
SLC25A42
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A46
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A46
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC2A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC2A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC30A10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC30A9
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC32A1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC33A1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC35A1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC35A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC35A2
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SLC35A2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SLC35C1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC35C1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC35D1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC37A4
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC38A3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A14
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC3A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SLC40A1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC46A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC46A1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC4A4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A3
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC5A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC6A17
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A19
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ2_24_NHS_review, Q2_24_MOI, Q2_24_expert_review
Green
SLC6A19
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A8
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SLC6A8
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SLC6A9
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC7A7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC7A9
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SLC9A6
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SLX4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMAD4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCA2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SMARCA4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SMARCA5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
SMARCB1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SMARCC2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCD1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCE1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SMC1A
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SMC3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMG8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMOC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMPD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMPD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMPD4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMS
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SNAP25
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SNAP29
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SNIP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
SNORD118
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalOtherlocus-type-small-nucleolar
Green
SNORD118
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
SNRPB
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SNX14
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SNX27
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
SON
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOS1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOS2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX10
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX10
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX11
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX5
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX6
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX9
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ2_24_demote_amber, Q2_24_NHS_review
Green
SPART
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPART
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPATA5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SPATA5L1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
SPECC1L
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPEN
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPG11
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPG11
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPG7
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SPG7
Mitochondrial disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SPOP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
SPR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
SPR
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
SPRED1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPRED2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPTAN1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPTBN1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPTBN2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPTBN4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPTLC1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPTLC2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SRCAP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SRD5A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SRD5A3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SRRM2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SRSF1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SSBP1
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SSBP1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SSR4
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SSR4
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ST3GAL3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ST3GAL3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ST3GAL5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ST3GAL5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STAG1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicrodeletion
Green
STAG2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
STAMBP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STIL
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STN1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRA6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRADA
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
STS
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
STT3A
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
STT3A
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
STX1B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
STXBP1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SUCLA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUCLA2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUCLA2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUCLG1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUCLG1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUCLG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUFU
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SUMF1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUMF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUMF1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUOX
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUOX
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUPT16H
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SURF1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SURF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SURF1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SURF1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUZ12
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SVBP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
SYN1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SYNCRIP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
SYNGAP1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SYNJ1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYP
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SYT1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
SZT2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TACO1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TACO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TACO1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF1
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TAF2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TAF6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TALDO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAMM41
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TANC2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TANGO2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TANGO2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAOK1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TASP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAT
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAZ
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
TAZ
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
TAZ
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
TBC1D20
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D23
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D24
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBCD
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBCE
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBCK
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBL1XR1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TBR1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TCEAL1
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
TCF20
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
TCF4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TCF7L2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TCN2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCN2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCTN2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCTN3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TDP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TECPR2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TEFM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TEFM
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TELO2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TENM3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TET3
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TFAM
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TFAM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TFE3
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
TFR2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TGIF1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
TH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
THOC2
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
THOC6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
THRA
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
THUMPD1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIAM1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM50
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM50
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM50
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM8A
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TIMM8A
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TIMMDC1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMMDC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TK2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TK2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TLK2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMCO1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM106B
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
TMEM106B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
TMEM126B
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM126B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM147
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM165
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM165
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM199
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM216
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM222
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMEM237
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM240
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMEM5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TMEM5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TMEM63A
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
TMEM63B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
TMEM63C
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMEM67
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM70
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM70
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM70
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM94
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMTC3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMX2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNPO2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TNRC6B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TOE1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOP3A
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOP3A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOR1A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TP73
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPK1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRA2B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
TRAF7
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRAIP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRAPPC12
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC6B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC9
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TREM2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TREX1
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TREX1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TREX1
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TRIM37
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIM8
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIO
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TRIP12
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRIT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRIT1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRMT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT10A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT10C
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT10C
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT5
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMU
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMU
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRNT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRNT1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRNT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRPM3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
TRPM6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRRAP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
TSC1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TSC2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TSEN2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSEN34
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSEN54
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSFM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSFM
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSFM
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSHB
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSPAN7
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TSPOAP1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC19
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC19
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC37
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TTC37
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TTC5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TTC8
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTI1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTI2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBA1A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB2A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB2B
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB4A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB4A
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBG1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBGCP6
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUFM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUFM
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUFM
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUSC3
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUSC3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TWIST1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TWNK
White matter disorders and cerebral calcification - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TWNK
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TWNK
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TYMP
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TYMP
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TYMP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
U2AF2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
UBA5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBAP2L
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
UBE2A
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
UBE3A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
UBE3B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBE4A
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBR1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBR7
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBTF
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
UFM1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Ade novo
Green
UFM1
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UFSP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
UGDH
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UGP2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UGT1A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UMOD
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
UMPS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UMPS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UNC80
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UPB1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UPF3B
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
UQCC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCC2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRB
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRC2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRFS1
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRFS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UROC1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UROD
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
UROS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USP18
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
USP7
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
USP9X
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
VAMP2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
VARS
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
VARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VARS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VCP
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
VIPAS39
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VKORC1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
VLDLR
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS11
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS11
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS13B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS16
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS33A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS33B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS41
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS4A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
VPS53
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
VRK1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WAC
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
WARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WARS2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WARS2
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WASF1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WDFY3
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
WDPCP
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR26
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
WDR37
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense, gene-checked
Green
WDR4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR45
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
WDR45
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
WDR45B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR62
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR73
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR81
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WFS1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
WIPI2
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WNK3
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
WNT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WWOX
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPA
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPC
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPNPEP3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPR1
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
XRCC4
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XYLT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XYLT1
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XYLT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YARS2
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YIF1B
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
YIPF5
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YWHAG
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
YY1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZBTB18
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZBTB20
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZBTB24
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZBTB47
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
ZBTB7A
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZC4H2
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ZDHHC9
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ZEB2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZFHX4
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZFYVE26
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZFYVE26
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZIC1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
ZIC2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZMIZ1
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZMYM2
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZMYM3
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ZMYND11
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZMYND8
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
ZNF142
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF292
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZNF335
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF462
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZNF526
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF699
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF711
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ZSWIM6
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism, curated-variant-list