Genomics England
GMS Panels
Panels
Genes and Entities

Retinal disorders (Version: )

There is a more recent signed-off version of this panel
Relevant disorders: Posterior segment abnormalities, Cone Dysfunction Syndrome, Developmental macular and foveal dystrophy, Inherited macular dystrophy, Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy, Rod Dysfunction Syndrome, Rod-cone dystrophy, Familial exudative vitreoretinopathy, Familial exudative retinopathy, Sorsby retinal dystrophy, Doyne retinal dystrophy, R32
Signed off date: 30 Nov 2022
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
See this panel in PanelApp
247 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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ABCA4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ABCC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ABHD12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACBD5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACO2
BIALLELIC, autosomal or pseudoautosomalN/AQ2_22_MOI
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ADAM9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTS18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADGRV1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AFG3L2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ2_22_MOI
Green
AGBL5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AHI1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AIPL1
BIALLELIC, autosomal or pseudoautosomalN/AQ4_22_MOI
Green
AIRE
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ALDH3A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALMS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALPK1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
AMACR
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
ARHGEF18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARL13B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARL2BP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARL3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ARL6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATF6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ATOH7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BBS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BBS10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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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
BEST1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
C1QTNF5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
C21orf2
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C2orf71
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C8orf37
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CABP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1F
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
CACNA2D4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAPN5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CC2D2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDHR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP164
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP250
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP290
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP78
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CERKL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CFH
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHM
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Agene-therapy-trial
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
CLRN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CNGA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CNGA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CNGB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CNGB3
BIALLELIC, autosomal or pseudoautosomalN/Agene-therapy-trial
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CNNM4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL18A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL4A1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CRB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRX
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CSPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTNNA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CTNNB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CTSD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CWC27
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP4V2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHDDS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DRAM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EFEMP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ELOVL4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ERCC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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EYS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM161A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM57B
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
FLVCR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FZD4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GNAT1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GNAT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNB3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPTG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPR143
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
GPR179
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRK1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRM6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GUCA1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GUCA1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GUCY2D
BOTH monoallelic and 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
HGSNAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HK1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Afounder-effect
Green
HMX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IDH3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IDH3B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT140
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT172
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT27
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT74
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IKBKG
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
IMPDH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IMPG1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
IMPG2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
INPP5E
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IQCB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ13
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KCNV2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIAA1549
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KIF11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIZ
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KLHL7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LAMA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LCA5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRIT3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP5
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LZTFL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED12
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
MERTK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFRP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFSD8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MKKS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MKS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMACHC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSTO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTTP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYO7A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDP
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
NEUROD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NMNAT1
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
NR2E3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
NRL
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
NYX
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OFD1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OPN1LW
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OPN1MW
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OTX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
P3H2
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
PANK2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PCDH15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCYT1A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDE6A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDE6B
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PDE6C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDE6G
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX6
BIALLELIC, autosomal or pseudoautosomalN/AQ1_22_MOI
Green
PEX7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHYH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLA2G5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLK4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POC1B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRCD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRDM13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PROM1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PRPF3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRPF31
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRPF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRPF6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ3_22_rating, Q3_22_expert_review
Green
PRPF8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRPH2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PRPS1
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
RAB28
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RBP3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBP4
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RCBTB1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RD3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RDH12
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RDH5
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
REEP6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RGS9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RHO
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RIMS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RLBP1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ROM1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RP1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RP1L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RP2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RP9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPE65
BIALLELIC, autosomal or pseudoautosomalN/Agene-therapy-trial
Green
RPGR
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Agene-therapy-trial
Green
RPGRIP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPGRIP1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RS1
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
SAG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCAPER
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDCCAG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC24A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC38A8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SNRNP200
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPATA7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SRD5A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SSBP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ1_22_MOI
Green
TIMM8A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TIMP3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
TINF2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TMEM216
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM218
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMEM231
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM237
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TOPORS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAF3IP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TREX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRPM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSPAN12
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TTC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTLL5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBB4B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBGCP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBGCP6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TULP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UNC119
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
USH1C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USH1G
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USH2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USP45
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
VCAN
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
VPS13B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDPCP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WHRN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZFYVE26
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF408
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ZNF423
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A