Genomics England
GMS Panels
Panels
Genes and Entities

Intellectual disability (Version: )

There is a more recent signed-off version of this panel
Relevant disorders: Coarse facial features including Coffin-Siris-like disorders, ID, Moderate, severe or profound intellectual disability, Schizophrenia plus additional features, Intellectual disability - microarray, fragile X and sequencing, Intellectual disability - microarray and sequencing, R29
Signed off date: 7 Aug 2024
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
See this panel in PanelApp
1467 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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AAAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
AASS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCC9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ1_24_MOI, Q1_24_NHS_review
Green
ABCD1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
ABCD4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD16A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACACA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAD9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADS
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
ACER3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACO2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ACOX1
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
ACSL4
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
ACTB
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTG1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTL6A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
ACTL6B
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ACY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAM22
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADARB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAT3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADD1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADD3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADGRG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADNP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ADSL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AFF2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOthernucleotide-repeat-expansion
Green
AFF3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
AFF4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
AGA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGO1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AGO2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
AGTPBP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AHCY
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
AHDC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
AHI1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AIFM1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
AIMP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AKT3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
ALDH18A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ALDH3A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH4A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH5A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH7A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG13
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
ALG3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALKBH8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALMS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMER1
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
AMPD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANK2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ANK3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ANKRD11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ANKRD17
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
AP1G1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AP1S1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP1S2
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
AP3B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP3B2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP4B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP4E1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP4M1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP4S1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APOPT1
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ARCN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARF3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
ARFGEF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARFGEF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARHGEF9
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARID1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARID2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ARL13B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARL6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARMC9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSE
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
ARV1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARX
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anucleotide-repeat-expansion
Green
ASAH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASH1L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ASL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASNS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASPM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASXL1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ASXL2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ASXL3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATAD1
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
ATAD3A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ATG7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATIC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
ATP13A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP1A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP1A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP1A3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP2B1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP6AP2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP6V0A1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP6V0A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V0C
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP6V1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP6V1B2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP7A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP8A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP9A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATRX
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AUTS2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
B3GALNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GLCT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B9D2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BAP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BBS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCAP31
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BCAS3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDHA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDHB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCL11A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BCL11B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BCOR
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BICRA
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BLM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BLOC1S1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BMP4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOLA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BPTF
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BRAF
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BRAT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRD4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BRF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRPF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BRSK2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
BRWD3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BSCL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BTD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BUB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BUB1B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C12orf4
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C12orf57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C12orf65
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C2CD3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C2orf69
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
C5orf42
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CA8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CACNA1B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CACNA1D
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CACNA1E
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CACNA1G
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
CACNA1I
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
CACNA2D1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAMK2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
CAMK2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CAMK4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
CAMTA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CAPN15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAPRIN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CASK
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CBL
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CBS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CC2D1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CC2D2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCBE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC22
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CCDC32
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CCDC47
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CCDC82
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CCDC88C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCND2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CDC42
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CDC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CDK10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDK13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CDK16
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
CDK19
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CDK5RAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDK8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDKL5
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CELF2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
CENPF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CENPJ
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP104
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP120
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP135
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP152
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP290
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP41
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP55
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP83
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP85L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CHAMP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHD4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHD5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHKA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHKB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHMP1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CIC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CIT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CKAP2L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLCN3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
CLCN4
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CLDN11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CLDN5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CLN3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLP1
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
CLPB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CLTC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNKSR2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CNNM2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CNOT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNOT2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNOT3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNOT9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CNTNAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CNTNAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COASY
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL4A1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
COL4A2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
COL4A3BP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
COLEC11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COPB2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
COQ4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPLX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRADD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CREBBP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CSDE1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
CSNK1G1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
CSNK2A1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CSNK2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CSPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSTB
BIALLELIC, autosomal or pseudoautosomalOthernucleotide-repeat-expansion
Green
CTBP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
CTCF
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CTDP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTNNA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTNNB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CTNND1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CTR9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CTSA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTU2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUL3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CUL4B
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CUX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CUX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CWC27
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CWF19L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CXorf56
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYFIP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
D2HGDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DAG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DAGLA
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DBT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCAF17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCHS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCPS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCX
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
DDB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDHD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX23
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDX3X
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DEAF1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DEGS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DEPDC5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DHCR24
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHDDS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DHFR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHPS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHTKD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHX30
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DHX37
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI, Q1_24_NHS_review
Green
DHX9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DIAPH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DIS3L2
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, deletions
Green
DKC1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DLD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLG3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DLG4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicroduplication
Green
DLL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DMD
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial, Skewed X-inactivation
Green
DMPK_CTG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
DMXL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNM1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DNM1L
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DNMT3A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
DNMT3B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOCK3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOCK6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOCK7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOHH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOLK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPAGT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPF2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypedominant-negative
Green
DPH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPH5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYD
BIALLELIC, autosomal or pseudoautosomalN/Apharmacogenetics
Green
DPYS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYSL5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DTYMK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYNC1H1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DYRK1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EBF3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EBP
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
EDEM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EED
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EEF1A2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EFTUD2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EHMT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EIF2AK2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
EIF2AK3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2S3
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF4A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
EIF4A3
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
EIF5A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ELAC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELOVL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMC1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
EMC10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EML1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ENTPD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EP300
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EPG5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERBB4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ERCC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC6L2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERI1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERLIN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ESAM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ESCO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETHE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXTL3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EZH2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FAM126A
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
FAM20C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM50A
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
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
FARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FARSA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAT4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBRSL1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
FBXL3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXO11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FBXO28
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FBXO31
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
FBXW11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FBXW7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FGD1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FGF12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
FH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FIG4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FILIP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKRP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FLVCR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FMN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FMR1
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
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXG1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FOXP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FOXP2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FOXRED1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FRMD5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FRMPD4
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
BIALLELIC, autosomal or pseudoautosomalN/Angs-false-positive-region
Green
FTSJ1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FUCA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUT8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GABBR2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
GABRA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
GABRA5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRB3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRD
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
GABRG2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GAD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GATAD2B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GATM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCH1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GCSH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GDI1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GEMIN5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFAP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GFER
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GJC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GK
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GLB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLDC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLI2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GLI3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ2_24_demote_amber, Q2_24_NHS_review
Green
GLIS3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLRA2
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
GLUL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLYCTK
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
GM2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMPPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMPPB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNAI1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNAO1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
GNB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GNB5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPTAB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPTG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPAA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPC3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GPC4
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
GPT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRIA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypewatchlist_moi
Green
GRIA2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIA3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GRIA4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRID2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRIK2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRIN1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRIN2A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIN2B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIN2D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRM7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTF2E2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTF2H5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GUSB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
H3F3A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
H3F3B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
HACE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HCCS
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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HCN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HDAC4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HDAC8
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
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
HECW2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
HEPACAM
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
HERC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HERC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HESX1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HEXA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HGSNAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIBCH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HID1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIST1H1E
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
HIST1H4C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypenew-gene-name
Green
HIST1H4E
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypenew-gene-name
Green
HIVEP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HK1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypemissense
Green
HLCS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMGB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
HMGCL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HNMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HNRNPH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HNRNPH2
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HNRNPR
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNRNPU
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HOXA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HPD
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HPDL
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
HPRT1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HSD17B10
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AQ1_24_MOI
Green
HSD17B4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSPD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HTRA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HUWE1
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
IARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
IBA57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IDH2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IDS
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
IDUA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IER3IP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFIH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
IFT172
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IGF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IGF1R
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IKBKG
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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
IMPDH2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
INPP5E
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INPP5K
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INTS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INTS11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IQSEC2
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IRX5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37390-Loss
5p15 terminal (Cri du chat syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37392-Gain
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37392-Loss
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37393-Gain
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37394-Loss
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37396-Loss
15q24 recurrent region (A-D) (includes SIN3A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37397-Gain
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
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
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
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
11p13 (WAGR syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37404-Gain
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37404-Loss
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37405-Loss
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37406-Loss
16p13.3 region (includes CREBBP) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37408-Loss
2p15p16.1 region (includes BCL11A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37411-Loss
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37415-Gain
16p13.11 recurrent region (includes MYH11) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37415-Loss
16p13.11 recurrent region (includes MYH11) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37418-Gain
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37418-Loss
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37420-Loss
17q21.3 recurrent region (includes KANSL1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37421-Gain
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37421-Loss
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37423-Gain
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37423-Loss
8p23.1 recurrent region (includes GATA4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37424-Loss
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
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37425-Loss
5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37429-Loss
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37430-Gain
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
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
17q11.2 recurrent region (includes NF1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37431-Loss
17q11.2 recurrent region (includes NF1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37432-Gain
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37432-Loss
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37433-Gain
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
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
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37439-Gain
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
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37441-Loss
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37443-Loss
3q29 recurrent region (includes DLG1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37446-Gain
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
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
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
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37478-Loss
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37486-Loss
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
1q43q44 terminal region (includes AKT3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37494-Gain
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
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
2q11.2 recurrent region (includes ARID5A, TMEM127) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37500-Loss
15q25.2 recurrent region (LCR B-C, proximal) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37501-Loss
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46290-Gain
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
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
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
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46299-Gain
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
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
3q24 Region (includes ZIC1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46742-Loss
7p22.1 region (includes ACTB) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46743-Gain
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
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
ISPD
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ITPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITPR1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
IVD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JAM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JARID2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KANSL1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KAT5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KAT6A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KAT6B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KAT8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
KCNA2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCND2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
KCNH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNH5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNJ10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ11
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KCNJ6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNK3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNK9
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)OtherN/A
Green
KCNMA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KCNN2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNN3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNQ2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNQ3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNQ5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNT2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCTD3
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
KCTD7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KDM1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KDM2B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
KDM3B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KDM4B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KDM5A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KDM5B
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KDM5C
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
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIAA0586
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIAA1109
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIDINS220
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIF1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF1BP
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIF21B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
KIF2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF4A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
KIF5A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF5C
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KLF7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
KLHL20
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
KLHL7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KMT2A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KMT2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT2C
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KMT2D
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KMT2E
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT5B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KNL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KPTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
L1CAM
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
L2HGDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMP2
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LARP7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
LETM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LHX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
LIAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIG4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LINGO4
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
LINS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMBRD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
LMNB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
LONP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRPPRC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LSS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYRM7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LZTR1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MAB21L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAB21L2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MACF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MADD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAF
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MAGEL2
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
MAN1B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAN2B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAN2C1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MANBA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAOA
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MAP1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MAP2K1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MAP2K2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MAPK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MAPK8IP3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAPRE2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
MASP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAST1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAST4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
MAT1A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MBD5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MBOAT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MBTPS2
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCCC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCM3AP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCOLN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCPH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MDH2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MECP2
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
MED11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED12
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MED13L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MED17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED25
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
MED27
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MEF2C
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MEIS2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
METTL23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
METTL5
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
MFF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFSD2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFSD8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MGAT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MICU1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MID1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MINPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MKKS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MKS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLYCD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMAA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMAB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMACHC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMADHC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MOCS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOGS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MORC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MPDU1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPLKIP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPP5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, new-gene-name
Green
MRPS22
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS34
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSL3
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTFMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTOR
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, missense, somatic
Green
MTR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTRR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTSS1L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
MUT
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
MVK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYCN
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYH10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
MYO5A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYT1L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NAA10
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NACC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
NAGA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGLU
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NALCN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
NANS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAPB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NARS
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
NBEA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NCDN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NCKAP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
NDE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDP
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NDST1
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
NDUFA1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NDUFA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEDD4L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NEMF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEU1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEUROD2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NEUROG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEXMIF
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NFASC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NFIA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adeletions
Green
NFIX
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NFU1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NGLY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHS
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NIPBL
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NKAP
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NLGN3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NONO
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NPC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NR2F1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NR2F2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NR4A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AAutism Spectrum Disorder
Green
NRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NRCAM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NRROS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NRXN1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
NSD1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NSD2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NSDHL
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NSRP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NSUN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NT5C2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NTNG2
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
NTRK1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NTRK2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NUBPL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUDT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP214
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUS1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
OCLN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OCRL
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ODC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
OFD1
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
OGDHL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OGT
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
OPA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OPHN1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OSGEP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTC
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
OTUD5
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OTUD6B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTUD7A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
OXR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
P4HTM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PABPC1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
Green
PACS1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PACS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAFAH1B1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PAH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
PAK3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PAN2
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PARN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAX8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PBX1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCDH12
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
PCDH19
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCGF2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PCNT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCYT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDE4D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PDGFRB
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PDHA1
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDHX
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
PDSS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDZD8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEPD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PET100
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX11B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX13
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX16
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX26
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX6
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PEX7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGK1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PGM2L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHACTR1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PHF21A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adeletions
Green
PHF6
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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PHGDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHIP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PI4KA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIBF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIDD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGA
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
PIGB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGH
BIALLELIC, autosomal or pseudoautosomalN/AAutism Spectrum Disorder
Green
PIGK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGO
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGQ
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGU
BIALLELIC, autosomal or pseudoautosomalN/Amissense
Green
PIGV
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGW
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIK3CA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, somatic
Green
PIK3R2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PIP5K1C
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PITRM1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PLA2G6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLAA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLCB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLK1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PLK4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLP1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PLPBP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLXNA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PMM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNKP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POGZ
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
POLA1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
POLG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR1C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
POLR3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR3B
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLRMT
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POMGNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PORCN
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
POU3F3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPFIBP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPIL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPM1D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP1CB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP1R12A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPP1R15B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPP1R21
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PPP1R3F
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
PPP2CA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP2R1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPP2R5D
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPP3CA
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PQBP1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PRDM13
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRICKLE2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
PRKAR1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRMT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRPF8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRPS1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PRR12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRSS12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRUNE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSAP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSMC3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PSMD12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PSPH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTCH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTCHD1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PTDSS1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTEN
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTF1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTPN11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTPN23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTPN4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
PTRHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUF60
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicrodeletion
Green
PUM1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PURA
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PUS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUS3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUS7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYCR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYCR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
QDPR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QRICH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RAB11A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
RAB11B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAB18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB39B
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RAB3GAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB3GAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB5C
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
RAC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAC3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RAD21
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RAF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RAI1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RALA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RALGAPA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAP1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RARB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
RARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBBP8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBM10
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RBSN
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
RELN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RERE
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RFT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RFX3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
RFX4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
RFX7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RHOBTB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RIT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RLIM
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Amissense
Green
RMND1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASET2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNF113A
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RNF13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RNU7-1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, locus-type-rna-small-nuclear
Green
ROBO1
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
ROGDI
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RORA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPGRIP1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPIA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPL10
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RPS6KA3
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RSRC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTEL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTN4IP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAMD9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
SAMHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SATB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SATB2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SBF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SC5D
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCAF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCAMP5
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthergene-checked
Green
SCAPER
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCN1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN2A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN3A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN8A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
SCO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCYL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDCCAG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHAF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEMA6B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SEPSECS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERAC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SET
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETBP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETD1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETD1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETD2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
SETD5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SFXN4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SGPL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SGSH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHANK1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
SHANK2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SHANK3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SHH
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SHMT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHOC2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SHQ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIAH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SIK1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SIL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIN3A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SIN3B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
SIX3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SKI
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC12A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC12A5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC12A6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC13A5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC16A2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SLC17A5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC1A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC1A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC1A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A22
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC30A9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC32A1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC33A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC35A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC35A2
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC38A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC46A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC4A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC6A17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A8
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SLC6A9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC9A6
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMAD4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCA2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SMARCA4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SMARCA5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
SMARCB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SMARCC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCE1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SMC1A
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMOC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMPD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMPD4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMS
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SNAP25
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SNAP29
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SNIP1
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
SNORD118
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
SNRPB
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SNX14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SNX27
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
SON
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOS1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ2_24_demote_amber, Q2_24_NHS_review
Green
SPART
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPATA5
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SPATA5L1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
SPECC1L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPEN
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPG11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPOP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
SPR
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
SPRED1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPRED2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPTAN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPTBN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPTBN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPTBN4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SRCAP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SRD5A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SRRM2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SRSF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SSR4
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ST3GAL3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ST3GAL5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STAG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicrodeletion
Green
STAG2
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STIL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRADA
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
STT3A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
STX1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
STXBP1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SUCLG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUFU
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SUMF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUOX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUPT16H
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SURF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUZ12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SVBP
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
SYN1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SYNCRIP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
SYNGAP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SYNJ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYP
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SYT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
SZT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TAF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TAF6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TANC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TANGO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAOK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TASP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAZ
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
TBC1D20
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D24
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBCD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBCE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBCK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBL1XR1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TBR1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TCEAL1
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
TCF4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TCF7L2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TCN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCTN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCTN3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TDP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TECPR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TEFM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TELO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TENM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TET3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TFE3
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
TGIF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
THOC2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
THOC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
THRA
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
THUMPD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIAM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM50
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TLK2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMCO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM106B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
TMEM147
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM165
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM216
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM222
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMEM237
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM240
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMEM5
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TMEM63B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
TMEM63C
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMEM67
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM70
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM94
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMTC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNPO2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TNRC6B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TOE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOR1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TP73
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRA2B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
TRAF7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRAIP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC6B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TREX1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TRIM8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIO
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TRIP12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIT1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRMT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT10A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRPM3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
TRRAP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
TSC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TSC2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TSEN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSEN34
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSEN54
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSFM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSHB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSPAN7
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TSPOAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC37
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TTC5
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TTC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTI1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTI2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBA1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB2A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB2B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBB4A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBGCP6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUSC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TWIST1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
U2AF2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
UBA5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBAP2L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
UBE2A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
UBE3A
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
UBE3B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBE4A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBR7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBTF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
UFM1
BIALLELIC, autosomal or pseudoautosomalN/Ade novo
Green
UFSP2
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
UGDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UGP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UMPS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UNC80
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UPF3B
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
UROC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USP7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
USP9X
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
VARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
VARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VCP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
VLDLR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS13B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS41
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS4A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
VPS53
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
VRK1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WAC
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
WARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WASF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WDFY3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
WDPCP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR26
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
WDR37
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense, gene-checked
Green
WDR4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR45
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR62
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR73
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR81
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WIPI2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WNK3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
WNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WWOX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XRCC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XYLT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YIF1B
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
YIPF5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YWHAG
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
YY1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZBTB18
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZBTB20
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZBTB24
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZBTB47
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
ZBTB7A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZC4H2
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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ZEB2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZFHX4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZFYVE26
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZIC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
ZIC2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZMIZ1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZMYM2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZMYM3
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZMYND8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
ZNF142
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF292
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZNF335
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF462
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZNF526
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF699
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF711
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ZSWIM6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism, curated-variant-list