Genomics England
GMS Panels
Panels
Genes and Entities

Fetal anomalies (Version: )

There is a more recent signed-off version of this panel
Relevant disorders: R21, Fetal anomalies with a likely genetic cause, Fetal anomalies with a likely genetic cause - non urgent, R412
Signed off date: 30 Nov 2022
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
See this panel in PanelApp
1224 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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AAAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ABCA12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ABCC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ABCC9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ABHD5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ABL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ACAD9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACADVL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACAN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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ACE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACOX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACP5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACTA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ACTA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ACTB
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ACTC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ACTG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ACTG2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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ACVR2B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ACY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADAMTS10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTS17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADAMTS3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTSL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADGRG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADGRG6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADNP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ADSL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AFF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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AGK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AGL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AGPS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AHCY
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AHDC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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AHI1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AKT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
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AKT2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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AKT3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
ALDH18A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ALDH1A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH3A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALDH7A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALDOA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALMS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALOX12B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALOXE3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALPL
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ALX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALX3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALX4
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
AMACR
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
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AMMECR1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
AMPD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ANAPC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ANKH
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ANKRD11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ANKS6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ANOS1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ANTXR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANTXR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AP1S2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AQ4_21_MOI
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AP4E1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AR
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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ARCN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ARFGEF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARHGAP29
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
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ARHGAP31
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ARID1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ARID1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ARL13B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ARL6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARMC4
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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
ARX
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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ASAH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ASCC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ASNS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ASPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASPM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ASS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ASXL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATAD3A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeQ3_21_MOI
Green
ATIC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP1A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V0A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP7A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATRX
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
B3GALNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GALT6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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B3GAT3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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B3GLCT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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B4GALT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GAT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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B9D2
BIALLELIC, autosomal or pseudoautosomalN/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
BCL11A
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
BFSP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BGN
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BHLHA9
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ4_21_MOI
Green
BICD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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BIN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BLM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BMP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BMP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
BMP4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BMPER
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BMPR1B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BNC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BRAF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BRAT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRCA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRIP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRPF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BSND
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BTD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BUB1B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C11orf70
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name, gene-checked
Green
C12orf65
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C21orf2
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C21orf59
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C2CD3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C5orf42
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C8orf37
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CA8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CACNA1E
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
Green
CACNA1G
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CANT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
CASR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CBL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CC2D2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCBE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC103
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC114
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CCDC151
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CCDC39
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC40
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC88C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCND2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDAN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDC45
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDH3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDK13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDK5RAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDK8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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
CDKN1C
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
CDON
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CELSR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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
CEP164
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
CEP63
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP83
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CERS3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CFAP53
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CFC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CFL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CFTR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHAMP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHD4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHD7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHKB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHMP1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHRNA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHRNA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHRNB1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CHRND
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHRNE
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CHRNG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHST14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHST3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHSY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHUK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CIT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CKAP2L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLCN7
BIALLELIC, autosomal or pseudoautosomalN/AQ4_21_MOI
Green
CLP1
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
CLPB
BIALLELIC, autosomal or pseudoautosomalN/AQ4_21_expert_review, Q4_21_MOI
Green
CNOT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CNOT3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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
COL10A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COL11A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL11A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL12A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL13A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL18A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL1A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COL1A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ3_22_MOI, Q3_22_expert_review
Green
COL2A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COL3A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL4A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COL4A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COL4A3BP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
COL6A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ4_21_MOI
Green
COL6A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL6A3
BIALLELIC, autosomal or pseudoautosomalN/AQ4_21_MOI
Green
COL9A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL9A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COLEC10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COLEC11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COLQ
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX7B
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
CPT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRADD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CREB3L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CREBBP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CRIPT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRLF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRTAP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRYAA
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CRYBA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CRYBA4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CRYBB1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CRYBB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CRYBB3
BIALLELIC, autosomal or pseudoautosomalN/AQ4_21_MOI
Green
CRYGC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CRYGD
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CSF1R
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSNK2A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CSPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTCF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CTNNB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CTNND1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CTSA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTU2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUL4B
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CUL7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CWC27
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP11A1
BIALLELIC, autosomal or pseudoautosomalN/AQ3_22_MOI
Green
CYP11B1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ3_22_MOI
Green
CYP17A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP1B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP21A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP26B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP2U1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP4F22
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DAG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DCHS1
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
DDR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX3X
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
DDX59
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DENND5A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR24
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHFR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHODH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DIAPH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DIS3L2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DISP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist, gene-checked
Green
DKC1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DLL3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLL4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DLX5
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DMPK
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypenucleotide-repeat-expansion, currently-ngs-unreportable, Q3_21_MOI, Q3_21_rating, Q3_21_expert_review
Green
DNAAF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAAF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAAF3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAAF4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAAF5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAH11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAH5
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
DNAH9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAI1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAI2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJB11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DNAL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNM1L
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNM2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DNMT3A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DNMT3B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOCK6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOK7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOLK
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DONSON
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPAGT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DSP
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DSTYK
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DVL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DVL3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DYM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYNC1H1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DYNC2H1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYNC2LI1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYRK1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DZIP1L
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
ECEL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EDA
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AQ3_22_rating, Q3_22_NHS_review
Green
EDNRA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EDNRB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ4_21_MOI
Green
EED
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EFNB1
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
EFTUD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EHMT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EIF2AK3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2S3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
EIF4A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF5A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ELAC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ELOVL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMD
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
EML1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ENPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EOGT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EP300
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EPG5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPHB4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
ERCC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
EVC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EVC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOC3L2
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
EXOSC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EXT2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EXTL3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EYA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EZH2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FAH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM111A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FAM126A
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
FAM20A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM20C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM46A
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
FAM58A
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Anew-gene-name
Green
FANCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FANCB
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FANCC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FANCD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FANCE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FANCF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FANCG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FANCI
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FANCL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAT4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBLN5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FBN2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ2_21_MOI
Green
FBXL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FGD1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FGF10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FGF3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FGF8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FGFR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
FGFR2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FGFR3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FIG4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKBP10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKBP14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKRP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FLNA
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
FLNB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
FLNC
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FLT4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FLVCR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOLR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOXC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOXE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXE3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
FOXF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOXG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOXP3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FOXRED1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FRAS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FREM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FREM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FRMD4A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FTL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FUT8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FYCO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FZD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
G6PC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALK1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GANAB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GATA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GATA3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GATA4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GATA6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GBA
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
GBA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GBE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GDF1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GDF5
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GDF6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GFAP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GFM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GJA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GJA3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GJA8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GJC2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GLA
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
GLB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLDC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLDN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLI1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLI2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GLI3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GLIS3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLUL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMNN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GMPPB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNAI3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GNAO1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GNAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
GNB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
GORAB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPC3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GPC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPI
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPSM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GREB1L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
GRHL3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRIN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ3_21_MOI
Green
GRIN2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRIP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GSC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTF2H5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GUCY2C
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GUSB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GZF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HAAO
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HBA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HBA2
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
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
HES7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HESX1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HIBCH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIST1H1E
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
HIVEP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HMGA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNF1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNF4A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNRNPK
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HOXA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HOXA13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HOXD13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HPSE2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HSD17B3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSD17B4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ1_22_MOI
Green
HSPD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSPG2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HUWE1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HYLS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ICK
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
IDH1
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, imprinted status unknownOtherwatchlist
Green
IFITM5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IFT122
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT140
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT172
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT43
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT52
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT80
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT81
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IGF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IGF1R
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
IGF2
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
IGHMBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IHH
BOTH monoallelic and 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
IL11RA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IL1RAPL1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
IMPAD1
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
INPP5E
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INPPL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INSR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INTU
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INVS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IQCB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IRF6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46302-Gain
Xp21.2 region (includes NR0B1) Gain
region
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ISPD
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ITGA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITGA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITGA8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITGB4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JAG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KANSL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KAT6A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KAT6B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KATNB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCTD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KDM5C
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AQ4_22_MOI
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
KIAA0586
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIAA0753
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIAA1109
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIF11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIF1A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KIF1BP
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIF22
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF5C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KLF1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
KLHL40
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KLHL41
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KLHL7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KMT2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT2C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
KMT2D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KNL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KRIT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KYNU
BIALLELIC, autosomal or pseudoautosomalN/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
LARGE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LARP7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LBR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LFNG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LGI4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LHX3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LHX4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LIFR
BIALLELIC, autosomal or pseudoautosomalN/AQ2_22_MOI, Q2_22_expert_review
Green
LIG4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMBR1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LMBRD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMNA
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LMNB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
LMNB2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
LMOD3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMX1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LONP1
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
LRP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRRC56
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
LRRC6
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
LTBP3
BIALLELIC, autosomal or pseudoautosomalN/AQ1_22_MOI
Green
LTBP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYST
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LZTFL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LZTR1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MAB21L2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MACF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAFB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
MAGEL2
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/Awatchlist
Green
MAP2K1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAP2K2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAP3K1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAP3K20
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAP3K7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAPRE2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MASP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MATN3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MBTPS2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MCOLN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCPH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED12
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation, Q3_21_MOI, Q3_21_expert_review
Green
MEF2C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MEGF10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MEGF8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MEIS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MEOX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MESD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MESP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFRP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFSD2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MGP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MID1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
MMACHC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMADHC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMP13
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MMP21
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
MNX1
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
MPDU1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPLKIP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MRPS22
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
MSTO1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MSX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MSX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MTM1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AQ3_22_MOI
Green
MTO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTOR
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MUSK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYBPC1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYCN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MYH10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
MYH11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYH2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYH3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MYH6
BIALLELIC, autosomal or pseudoautosomalN/AQ1_22_MOI
Green
MYH7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MYH8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MYH9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MYL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYMK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYO18B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYO9A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYOCD
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYPN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYRF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MYT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
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
NACC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NADSYN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGA
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
NBAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NBN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDP
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NDUFAF5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NECTIN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NECTIN4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEDD4L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NEK1
BIALLELIC, autosomal or pseudoautosomalN/Apolygenic
Green
NEK8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEK9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEU1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NFIX
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NHEJ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHS
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NIPAL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NIPBL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NKX2-5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NKX3-2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NODAL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NOG
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NOTCH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NOTCH2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
NPHP3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NR0B1
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
NR2F2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NR5A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NSD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NSDHL
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
NUBPL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP107
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NXN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OBSL1
BIALLELIC, 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
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
OPHN1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ORC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ORC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ORC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OSGEP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OSTM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
P3H1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
P4HB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAFAH1B1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAK3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PALB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAPSS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PARN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAX3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAX6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAX7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAX8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PBX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PCGF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
PCNT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCYT1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDCD10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PDE4D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PDGFRB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
PEPD
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
BIALLELIC, autosomal or pseudoautosomalN/AQ1_22_MOI
Green
PEX7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PFKM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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, imprinted status unknownN/AN/A
Green
PHOX2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PIBF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIEZO1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PIEZO2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PIGA
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
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
PIGT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGV
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIH1D3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
PIK3C2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIK3CA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
PIK3R1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PIK3R2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PITX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PITX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PITX3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PKD1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
PKD1L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PKD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PKHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PKLR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLAG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PLG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLK4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLOD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLOD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNKP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POC1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POGZ
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
POLE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLG2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
POLR1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
POLR1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
POLR1C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR1D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
POLR3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR3B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POR
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
POU1F1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPIB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPP1CB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP2R1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP2R5D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PQBP1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PRG4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRIM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRKAG2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRKAR1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRKD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
PRMT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRRX1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRSS56
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRUNE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSAP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSAT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSPH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTCH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PTDSS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PTF1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTH1R
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PTHLH
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PTPN11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PTPN14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUF60
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PYCR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYGM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QRICH1
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
RAB33B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB3GAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB3GAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAD21
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAI1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAPSN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RARB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RASA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBBP8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBM10
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RBM8A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBPJ
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RECQL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RELN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
REN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RERE
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RET
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RFT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RFX6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RIPK4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RIT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RMRP
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
RNU4ATAC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ROBO1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
ROBO3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ROGDI
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ROR2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RPGRIP1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPL10
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RPL11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPL35A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPL5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPS10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPS17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPS19
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPS24
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPS26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
RPS7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RRAS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RRM2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RSPH4A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RSPH9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTEL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RUNX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RYR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SALL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SALL4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SAMD9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
SAMHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SATB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SBDS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SC5D
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCARF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCLT1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
SCN1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN4A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDCCAG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDR9C7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEC23B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEC24D
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEPSECS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERPINF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERPINH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SETBP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETD5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SF3B4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SGCG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SGPL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SH3PXD2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHANK3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SHH
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SHOC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SHOX
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/APseudoautosomal region 1
Green
SIK3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIX3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SIX5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SIX6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SKI
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC10A7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC12A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC12A6
BIALLELIC, autosomal or pseudoautosomalN/Afor-review
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
SLC18A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A20
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A24
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC25A38
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC26A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC26A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC27A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC29A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC33A1
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
SLC35D1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLX4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMAD3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMAD4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCA4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
SMARCE1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
SMCHD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMG9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMO
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism, somatic
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
SNORD118
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SNRPB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SNX10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SNX14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SON
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOS2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOST
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SOX10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX18
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SOX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX3
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
SOX6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SP7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPAG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPARC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPATA5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPECC1L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPEG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPG11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPRED1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SRCAP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SRD5A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SRD5A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SRY
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Ay-chromosome
Green
ST14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STAC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
STAR
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/AN/A
Green
SUCLG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUFU
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SULT2B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUMF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUZ12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TAB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TAF1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TALDO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAPT1
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/Awatchlist
Green
TBC1D23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D24
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D32
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TBCD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBCE
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
TBCK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBL1XR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
TBX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TBX15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBX18
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TBX20
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TBX3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TBX4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TBX5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TBX6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCF12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCIRG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCOF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCTEX1D2
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TCTN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCTN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCTN3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TELO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TENM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TFAP2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TFAP2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TGDS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TGFB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TGFB3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TGFBR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TGFBR2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TGIF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TGM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
THOC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
THRA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TINF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMCO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM107
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM138
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM165
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM216
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM231
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM237
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM38B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM5
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TMEM67
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM94
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMEM98
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNNI2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TNNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNNT3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
TOE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOP3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOR1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TP63
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TPM2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
TPM3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TRAF3IP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAF7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
TRAIP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAP1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRAPPC12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TREX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIM37
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIP11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIP12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT10A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRPS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRPV4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRPV6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TSC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
TTC21B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC37
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TTC7A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBA1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
TUBB2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB4A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBGCP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBGCP6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TWIST1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TWIST2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
Green
TXNDC15
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TXNL4A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBA1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
UBE2T
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBE3B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UMPS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UROS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USP18
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
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
VAMP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VEGFC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
VIPAS39
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VLDLR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS13B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS33B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS53
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VRK1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VSX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDPCP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WDR34
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
WDR35
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR60
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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
WNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WNT10B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WNT5A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WNT7A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WRAP53
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
XRCC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XYLT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XYLT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YY1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZBTB18
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZBTB20
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
ZEB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZFP57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZIC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZIC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZIC3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ZMPSTE24
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZMYND10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZSWIM6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A