Genomics England
GMS Panels
Panels
Genes and Entities

DDG2P (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.
Signed off date: 6 May 2026
Panel types: Component Of Super Panel, GMS signed-off
See this panel in PanelApp
2196 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
AAAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
ABCB11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCB7
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ABCC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCC9
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ABCD1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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
ABL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
ACAD9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADVL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ACAT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACBD5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACBD6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACER3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACOX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACP5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACSL4
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ACTA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACTA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ACTB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ACTC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ACTG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
ACTL6B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACVR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
ACY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAM22
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTS15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTS18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTS19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTS9
BIALLELIC, autosomal or pseudoautosomalOthergene-checked
Green
ADAMTSL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADCY5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ADGRG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADGRG6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADNP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ADPRHL2
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ADSL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AFF2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anucleotide-repeat-expansion
Green
AFF3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AFF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
AFG3L2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGO1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AGPS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGTPBP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGXT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AHDC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
AIPL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AIRE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AK2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AKR1D1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AKT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
AKT2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AKT3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
ALDH18A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ALDH1A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH1A3
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
ALDOA
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
ALG2
BIALLELIC, autosomal or pseudoautosomalN/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
ALPL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALS2
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
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
AMFR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMOTL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AMPD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANAPC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANKH
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ANKRD11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ANKRD17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ANKRD26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ANO5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ANTXR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP1B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP1G1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AP1S2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
AP2M1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AP2S1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
APTX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AR
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ARCN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ARF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ARF3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked, de novo
Green
ARFGEF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ARFGEF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARHGAP31
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ARHGAP35
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
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, imprinted status unknownN/AN/A
Green
ARID1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ARID2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ARL3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
ARPC4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
Green
ASAH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASH1L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
ASPH
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, imprinted status unknownN/AN/A
Green
ASXL2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ASXL3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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
ATL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATOH7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP13A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP1A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP1A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Ade novo
Green
ATP1A3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP2B1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP5A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5D
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP6V0A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP6V0C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP6V1A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ATP6V1B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V1B2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
ATP6V1E1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP7A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP8B1
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, biallelic mutations in femalesN/AN/A
Green
ATXN7L3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
AUH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AUTS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
B3GALNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GALT6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B9D1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BANF1
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
BCL11A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
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/AN/A
Green
BICD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BICRA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BLM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BLOC1S6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BMP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BMP4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
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
Green
BOLA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BORCS8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BPTF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BRAF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
BRAT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRCA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRCA2
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
BRIP1
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
BSND
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
C11orf70
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
C14orf80
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
C1QBP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
C2orf71
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C4orf26
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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
CA5A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CA8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CACNA1B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
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 unknownN/AN/A
Green
CAD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAMK2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CAMK2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CAMK2D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked, de novo
Green
CAMK2G
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CAMSAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAMTA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CANT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAPN15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAPRIN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CARS2
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
CASP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CBFB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CBL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CBS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CBX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked, de novo
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
CCDC103
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CCDC114
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CCDC115
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CCDC151
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CCDC22
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CCDC32
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CCDC39
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC40
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC47
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CCDC65
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CCDC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC88A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC88C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCND2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CCNO
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCT3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CCT6A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
CD151
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDC42
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
CDH11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDH23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDK13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDK19
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
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
CELF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CELF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
CENPF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CENPJ
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CEP104
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
CEP57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP63
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP83
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP85L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
CFC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CFL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHAMP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
CHD7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHD8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHKA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHM
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CHMP1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHRDL1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CHRNA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHRNA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHRNA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHRNA4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CHRNB1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CHRNB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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
CIB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CIC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CISD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CIT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CKAP2L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLCN3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CLCN4
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CLCN6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
CLCN7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLCNKB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLMP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLPP
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/Ade novo
Green
CNOT3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNOT9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
CNPY3
BIALLELIC, autosomal or pseudoautosomalN/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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COG5
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 unknownOtherN/A
Green
COL11A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL11A2
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
COL25A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL27A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL2A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COL4A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
COL4A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
COL4A3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL4A3BP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthernew-gene-name
Green
COL4A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL6A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COL6A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL6A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL9A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL9A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL9A3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COLEC10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COLEC11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COPB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COQ2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX16
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
COX6B1
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
CPAMD8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPSF3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CREBBP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CRELD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRIPT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRX
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CRYAA
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CRYAB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CRYBA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CRYBA4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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/AN/A
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 unknownOtherN/A
Green
CSNK2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CSPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSTA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSTB
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
CTBP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CTC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTCF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CTDP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTNNA2
BIALLELIC, autosomal or pseudoautosomalN/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
CTNND2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
CTNS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTR9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked, de novo
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
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
CUL7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CUX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CWC27
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CWF19L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
CYP1B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP27A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP2U1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DAG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DAW1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DBT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCDC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
DDB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDHD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDOST
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDX23
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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)N/AN/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
DENND5A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DEPDC5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DHCR24
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHDDS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DHFR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHODH
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
DHX9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DIP2C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DIS3L2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DKC1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DLAT
BIALLELIC, autosomal or pseudoautosomalN/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/AN/A
Green
DLL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DLL3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLL4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DMD
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
DMP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DMPK_CTG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
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
DNAH5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAH9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNM1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNM1L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DNMT3A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DNMT3B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOCK2
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
DOCK8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOHH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOLK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOT1L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
Green
DPAGT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DPH5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYSL5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DRC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DRG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DSG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DSP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DSPP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DSTYK
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DVL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DVL3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DYM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYNC1H1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DYNC1I2
BIALLELIC, autosomal or pseudoautosomalN/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
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
ECHS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ECM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EDA
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
EDAR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
EDEM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EDN1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
EDNRA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
EDNRB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EED
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EEF1A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
EFEMP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EFL1
BIALLELIC, autosomal or pseudoautosomalN/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
EGR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EHMT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EIF2AK2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EIF2AK3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2S3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
EIF3A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
EIF3B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
EIF3F
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF4A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
EIF4A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF5A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ELAC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELMO2
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
EMC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMC10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMG1
BIALLELIC, autosomal or pseudoautosomalN/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
EPB41L3
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
EPCAM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPG5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPRS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ERBB3
BIALLELIC, autosomal or pseudoautosomalN/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
ERCC6L2
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
ERI1
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
EVC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EVC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXPH5
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
EZH1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
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 unknownOtherN/A
Green
FAM126A
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
FAM149B1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
FAM161A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM177A1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
FAM20A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM20C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
FANCM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FASTKD5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAT4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBN1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
FBN2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
FBP1
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
FBXW11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FBXW7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FDXR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FEM1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
Green
FEZF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FEZF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
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
FGF12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
FGF13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
FGF14
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FGF3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FGF9
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
FHL1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FIBP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FIG4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FILIP1
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
FLAD1
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/Amosaicism
Green
FLNB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
FLT4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FLVCR1
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)N/AN/A
Green
FN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOLR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOSL2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
FOXJ1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOXL2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOXN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOXP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOXP3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FOXP4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
FOXRED1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FRA10AC1
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
FRMD5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
FRMD7
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FRMPD4
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FRRS1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FRYL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FTCD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FTL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FTSJ1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FUCA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUK
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
FUT8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FXN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FXR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FYCO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FZD5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
FZD6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FZR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GAA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GABBR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABBR2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
GABRA4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
GABRB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRB3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRD
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
Green
GABRG2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
GALT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAS2L2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAS8
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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
GATAD2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GATM
BIALLELIC, autosomal or pseudoautosomalN/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
GCH1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GCSH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GDF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GDF11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
GEMIN4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GEMIN5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFAP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
GFER
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GHR
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
GJB3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GJC2
BOTH monoallelic and 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
GLDN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLE1
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
GLIS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLIS3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLMN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GLRA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GLRB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLUD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
GLUL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GM2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMNN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
GMPPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMPPB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNA11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
GNA14
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, gene-checked
Green
GNAI1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
GNAI3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GNAO1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GNAQ
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
GNAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
GNB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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
GOLGA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GORAB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GOT2
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/AN/A
Green
GPC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPSM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPX4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GREB1L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRHL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRHL3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRIA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
GRIA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRIA3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
GRID2
BOTH monoallelic and 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, imprinted status unknownN/AN/A
Green
GRIN2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRIN2D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
GRM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRM6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRM7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GSC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTF2E2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTF2H5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTF3C3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTF3C5
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
GTPBP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP2
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
H3F3A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
H3F3B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
HAAO
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HACD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HACE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HAX1
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, imprinted status unknownN/AN/A
Green
HDAC3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
HDAC4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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/AN/A
Green
HECW2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
HINT1
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 unknownN/Anew-gene-name
Green
HIST1H4J
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
HIVEP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
HLCS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMGA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HMGB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
HMGCL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMGCR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMGCS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMX1
BIALLELIC, autosomal or pseudoautosomalN/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
HNRNPA2B1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNRNPD
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
HNRNPH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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, imprinted status unknownN/AN/A
Green
HNRNPR
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNRNPU
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
HOXB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HOXC13
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HOXD13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HPD
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HPDL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HPGD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HPRT1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HPS1
BIALLELIC, autosomal or pseudoautosomalN/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 unknownOtherN/A
Green
HS2ST1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSD17B10
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HSD17B4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSD3B7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HSPD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSPG2
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
HYAL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HYAL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HYDIN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HYLS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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 unknownN/AN/A
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
IFT74
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT80
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
IGFBP7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IGHMBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IGSF1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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/Acurrently-ngs-unreportable
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
INPP4A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INPP5E
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INPP5K
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INPPL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INTS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INTS11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IPO8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IQSEC1
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
IREB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IRF2BPL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IRF6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IRX5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISPD
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ITCH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITGA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITGA7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITGA8
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
JAG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
JAG2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JAGN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JAK3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JAM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JARID2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
JPH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KANSL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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, 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
KBTBD13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
KCNC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
KCNC3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCND2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
KCND3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
KCNE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
KCNH5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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
KCNJ8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
KCNK3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNMA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KCNN2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
KCNN3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
KCNQ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNQ2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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, imprinted status unknownN/AN/A
Green
KCTD7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KDELR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KDM1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KDM2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KDM3B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KDM4B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KDM5B
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KDM5C
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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 unknownOtherN/A
Green
KIF2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
KIF5A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF5B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
KIF5C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KLF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
KLF7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
KLHL20
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
KLHL40
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
KMT2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT2C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT2D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT2E
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT5B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KNL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KPTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
KRIT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KRT74
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
LARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LBR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LEF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LEMD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LEMD3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LETM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LFNG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LGI4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LHX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
LHX3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LHX4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LIAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIFR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIG4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LINGO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LINS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMBRD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMNA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LMNB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LMNB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LMOD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMOD3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMX1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LNPK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LONP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRBA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRIG2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRIT3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP5
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LRPAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRPPRC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRRC56
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRRC6
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
LTBP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LTBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LTBP3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYST
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, imprinted status unknownN/AN/A
Green
MADD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAFB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAGEL2
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
MAMLD1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
MAP2K1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
MAP2K2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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
MAP4K4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
MAPK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
MAPK8IP3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAPKAPK5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAPRE2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MASP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAST1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAST3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
Green
MAT1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MATN3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MBD5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MBOAT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MC2R
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCCC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCCC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCEE
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
MECOM
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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
MECR
BIALLELIC, autosomal or pseudoautosomalN/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/AN/A
Green
MED13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MED13L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MED17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED25
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED27
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
METTL23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
METTL5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFN2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MFRP
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
MGP
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
MIR140
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
MIR17HG
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, locus-type-rna-long-non-coding
Green
MIR184
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Alocus-type-rna-micro
Green
MITF
BOTH monoallelic and 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
MMGT1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
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 unknownN/AN/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
MORC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MPDU1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPI
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPLKIP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPV17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPZ
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
MRE11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS22
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS34
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSL2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
MSX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MSX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MT-TP
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MTFMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTM1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MTO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTOR
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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
MYBPC1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYCN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MYF5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYH10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked, de novo
Green
MYH3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/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
MYLK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYLPF
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
MYO18B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYO5A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYO5B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYO7A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYOCD
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
MYT1L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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, imprinted status unknownN/AN/A
Green
NACC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
NADSYN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGLU
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGS
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
NARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NBAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NBEA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NBN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NCAPG2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NCDN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NDE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDNF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NDP
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NDST1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NDUFA10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFB11
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NDUFB3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFB8
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
NDUFV2
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/Amonogenic-polygenic
Green
NEK8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEU1
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, imprinted status unknownN/AN/A
Green
NFE2L2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
NFIA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NFIB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NFIX
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NFU1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NGLY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHLRC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHP2
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, imprinted status unknownN/AN/A
Green
NKAP
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NKX2-1
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
NKX6-2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NLGN3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NLGN4X
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
NMNAT1
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
NONO
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NOP10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NOTCH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NOTCH2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
NOVA2
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
NPHS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPM1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NPR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPR3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPRL2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NPRL3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NR2F1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NR2F2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NR4A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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, imprinted status unknownN/AN/A
Green
NSD2
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
NSRP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NSUN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NT5C3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NTNG2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
NUP107
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP133
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP188
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP214
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP54
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP62
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NYX
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
ODC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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
OGDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OGDHL
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
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
ONECUT1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
OPHN1
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
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
OTC
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OTOGL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTUD5
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OTUD6B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTULIN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
OXCT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OXR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
P3H1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
P4HB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
P4HTM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PACS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PACS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PACSIN3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAFAH1B1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PAK3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PALB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAPSS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PARN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAX3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PAX6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAX8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAX9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PBX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCBD1
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/AN/A
Green
PCDH19
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
PCDHGC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCGF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PCNT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCYT1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCYT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDCD10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PDE10A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PDE4D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PDE6G
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDE6H
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDGFRB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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
PDHX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS2
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/Ade novo
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/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
PGM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM2L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHACTR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PHEX
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
PHF12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
PHF21A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PHF5A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
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 unknownOtherN/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
PIEZO1
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
PIGB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
PIGS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGU
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGV
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGY
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIH1D3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
PIK3CA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
PIK3R1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PIK3R2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PIP5K1C
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
PKD1L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PKDCC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PKHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLA2G6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLAA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLAG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PLCB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLCB4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PLCE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLEC
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
PLP1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PLPBP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLS3
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
PLXNB2
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PLXND1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNKP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPO
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POC1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POC1B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POGZ
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
POLA1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
POLD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
POLE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
POLR1C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR1D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
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
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
POU3F3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
POU4F1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPFIA3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
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, imprinted status unknownN/AN/A
Green
PPP1R13L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPP1R21
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPP2CA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP2R1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PPP2R5C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PPP2R5D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PPP3CA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
PRDM12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRDM13
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRDX3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PREPL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRIM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRKACA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRKACB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRKAR1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PRKAR1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRKD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRKG2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRMT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PROP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRPF19
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
PRPF8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRPS1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PRR12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRRT2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PRRX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRSS12
BIALLELIC, autosomal or pseudoautosomalN/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
PSMB8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSMC3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
PSMC5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PSPH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTCH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PTCHD1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PTDSS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PTEN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
PTF1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTH
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
PTRH2
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
PURA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
PXDN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYCR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYCR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYGL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYROXD1
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, imprinted status unknownN/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
RAB14
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
RAB18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
RAB23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB34
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, imprinted status unknownOthergene-checked
Green
RABGAP1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
RAC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAC3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAD21
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RAD51C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
RAI1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RALA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RALGAPA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAPSN
BIALLELIC, autosomal or pseudoautosomalN/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
RAX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBBP5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
RBBP8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBCK1
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
RCC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RECQL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RELN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RERE
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
REST
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RET
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
RETREG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RFT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RFX3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
RFX4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
RFX6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RFX7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RHOBTB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RIMS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RIN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RINT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RIPK4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RIT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
RLIM
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RMND1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RMRP
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-long-non-coding
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
RNF13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
RNH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNPC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNU2-2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
RNU4-2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Alocus-type-rna-small-nuclear, de novo
Green
RNU4ATAC
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-small-nuclear
Green
RNU5B-1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Alocus-type-rna-small-nuclear
Green
ROBO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ROBO3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ROBO4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ROGDI
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ROR2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RORA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RORB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPE65
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPGRIP1
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
RPL26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPS19
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPS23
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
RPS6KC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RRAGC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
Green
RRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
RRAS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
RRM2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RSPH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RSPH3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RSPO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RSPO4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RSPRY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RSRC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTEL1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RTN4IP1
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
RYBP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
RYR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SACS
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
SARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name, de novo
Green
SARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SART3
BIALLELIC, autosomal or pseudoautosomalOthergene-checked
Green
SASS6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SATB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
SCAF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCAPER
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCARF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCN11A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
SCN1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN1B
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SCN2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN3A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN4A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN8A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
SCO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCUBE3
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
SEC23B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEC24D
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SECISBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SELENOI
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SELENON
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEMA3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEMA6B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
SEPHS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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, imprinted status unknownN/AN/A
Green
SETD1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETD1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETD5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
SF3B4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SGSH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SH3PXD2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHANK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
SHANK2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
SHMT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHOC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
SHOX
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/APseudoautosomal region 1
Green
SHROOM3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
SIAH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SIK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
SIL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIM1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amultifactorial, gene-checked
Green
SIN3A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SIX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
SKI
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SKIV2L
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SLC10A7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC12A5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC12A6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC12A9
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
SLC13A1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
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
SLC18A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A3
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
SLC22A5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC24A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A13
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A20
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A22
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A24
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC25A26
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A38
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC25A42
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC26A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC27A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC2A10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC31A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC32A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
SLC35D1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC37A4
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC38A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A13
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC45A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC46A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC4A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC4A10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC4A11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC4A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC6A17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A5
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, biallelic mutations in femalesN/AN/A
Green
SLF2
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
SMARCAL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMARCB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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, 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
SMC5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMCHD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMG9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMO
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Amosaicism
Green
SMOC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMOC2
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
SNAPC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SNF8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SNORD118
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
SNRPB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SNRPE
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SNUPN
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 unknownOtherN/A
Green
SOS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
SOX4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SOX5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
SP9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
SPAG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPARC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPAST
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPATA5
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SPATA5L1
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SPECC1L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPEG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPEN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPG11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPOP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
SPR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPRED1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPRED2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPTAN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
SPTBN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPTBN2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SPTBN4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPTLC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPTSSA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SRCAP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SRD5A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SREBF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
SRP54
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SRRM2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
ST3GAL3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ST3GAL5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STAC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STAG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
STAG2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
STAMBP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STAR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STAT5B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STIL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRADA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STS
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
STT3A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
STX1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
STX1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
STXBP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
SURF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUZ12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SYN1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SYNE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYNGAP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SYP
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SYT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SYT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SZT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TAC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TACO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TACR3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TAF13
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TANGO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAOK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TAPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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
TBC1D2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D32
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, imprinted status unknownN/AN/A
Green
TBR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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
TBX22
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
TBXAS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCEAL1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Ade novo
Green
TCF12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCF20
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCF7L2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCOF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
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
TDP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TDRD7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TECPR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TEK
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
TELO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TERC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Alocus-type-rna-long-non-coding
Green
TERT
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TET3
BOTH monoallelic and 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
TFE3
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
TGDS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TGFB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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 unknownOtherN/A
Green
TGFBR2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TGIF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
THAP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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, imprinted status unknownN/AN/A
Green
THUMPD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM8A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TINF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TK2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TKT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TLK2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TM2D3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMCO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM106B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMEM126B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM147
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM163
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
TMEM165
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM199
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TMEM216
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM218
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM222
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM237
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM240
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMEM251
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TMEM260
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM5
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TMEM63A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMEM63B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
Green
TMEM63C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM67
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM70
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM94
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMPRSS6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMTC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNFRSF13B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNNT3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNRC6B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TOE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOGARAM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TONSL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOP3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOR1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TP53RK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TP63
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TP73
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPM2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TPM3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRA2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRAF7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRAIP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC12
BIALLELIC, autosomal or pseudoautosomalN/Apolygenic
Green
TRAPPC2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIM32
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIM37
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIM71
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIM8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIO
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIP11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIP12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIP13
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT10A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT10C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRPM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRPM3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRPS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRPV3
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
TRRAP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
TSEN15
BIALLELIC, autosomal or pseudoautosomalN/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
TSHB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSHR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TSPAN7
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TSPEAR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC25
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TTC37
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TTC5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC7A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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
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 unknownN/AN/A
Green
TUBB2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
TUBB3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB4A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
TUBG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBGCP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBGCP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBGCP6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUFM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUSC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TWIST1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TWIST2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TXNL4A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TYR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TYRP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
U2AF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
UBA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
UBE2T
BIALLELIC, autosomal or pseudoautosomalN/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
UBR5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
UBR7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBTF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
UFC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UFM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UGGT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UGP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UGT1A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UMPS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UNC13A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
UNC45A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UNC45B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UNC80
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UPF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
UPF3B
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
UQCRB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRFS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRQ
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UROS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USP14
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
USP18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USP27X
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
UVSSA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VAMP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
VDR
BIALLELIC, autosomal or pseudoautosomalN/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
VPS4A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
WAC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WARS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
WASF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
WASHC5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WBP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDFY3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WDPCP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR11
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
WDR37
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WDR44
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOthergene-checked
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
WDR5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
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
WDR83OS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WFS1
BOTH monoallelic and 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
WNT10B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WNT3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WNT4
BOTH monoallelic and 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
WNT7B
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
WRAP53
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WT1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
WWOX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPO1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
XRCC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XYLT1
BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
XYLT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YAP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
YARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YRDC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YWHAE
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, de novo
Green
YWHAG
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
YY1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZBTB11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZBTB18
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZBTB20
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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, imprinted status unknownN/AN/A
Green
ZFHX3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
ZFHX4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
ZFP57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZFX
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
ZFYVE19
BIALLELIC, autosomal or pseudoautosomalN/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, imprinted status unknownN/AN/A
Green
ZIC3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ZMIZ1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZMPSTE24
BIALLELIC, autosomal or pseudoautosomalN/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
ZMYND10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZMYND11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZMYND8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
ZNF142
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF148
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
ZNF699
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF711
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ZNF750
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZNF808
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNRF3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
ZSCAN10
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
ZSWIM6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A