1. Panels
  2. Retinitis Pigmentosa Superpanel

Retinitis Pigmentosa Superpanel (Version 0.214)

Level 2: Ophthalmological disorders

Relevant disorders: Abnormal retinal morphology, HP:0000479
This panel contains these 2 panels:
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
Retinitis pigmentosa_Autosomal Dominant v0.57
Panel types: Superpanel, Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel includes the non-syndromic and syndromic autosomal dominant, autosomal recessive, and X-linked retinitis pigmentosa genes. It is a consensus panel used by RMH and VCGS.

Please consider the Syndromic Retinopathy and the Retinal Disorders Superpanel where additional features are present.

150 Entities

99 reviewed, 109 green

List Entity Reviews Mode of inheritance Details
150 Entitiess
Green List (high evidence)
ABCA4
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular Degeneration (Dominant)
  • Stargardt disease 1, 248200
  • Macular degeneration, age-related, 2, 153800
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Retinal dystrophy, early-onset severe, 248200
  • Stargardt Disease, Recessive
  • Retinitis pigmentosa 19, 601718
  • Cone-rod dystrophy 3, 604116
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Fundus flavimaculatus, 248200
Tags
  • deep intronic
Green List (high evidence)
ABHD12
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • nonsyndromic retinitis pigmentosa
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Tags
Green List (high evidence)
AGBL5
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 75 617023
Tags
Green List (high evidence)
AHI1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • nonsyndromic retinitis pigmentosa
  • Joubert syndrome 17
Tags
Green List (high evidence)
AIPL1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • AIPL1-related retinopathy (MONDO:0100438)
Tags
Green List (high evidence)
AMACR
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Tags
Green List (high evidence)
ARHGEF18
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 78 617433
Tags
Green List (high evidence)
ARL2BP
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa with or without situs inversus, 615434
Tags
Green List (high evidence)
BBS1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
Tags
Green List (high evidence)
BBS2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Bardet-Biedl syndrome 2
  • Retinitis pigmentosa 74
Tags
Green List (high evidence)
BEST1
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
  • Maculopathy, bull's-eye
  • Best Vitelliform Macular Dystrophy
  • Best macular dystrophy, 153700
  • Vitreoretinochoroidopathy, 193220
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Bestrophinopathy, 611809
  • Vitelliform macular dystrophy, adult-onset, 608161
Tags
Green List (high evidence)
BEST1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
  • Maculopathy, bull's-eye
  • Best Vitelliform Macular Dystrophy
  • Best macular dystrophy, 153700
  • Vitreoretinochoroidopathy, 193220
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Bestrophinopathy, 611809
  • Vitelliform macular dystrophy, adult-onset, 608161
Tags
Green List (high evidence)
C1QTNF5
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal degeneration, late-onset, autosomal dominant MIM#605670
Tags
Green List (high evidence)
C2orf71
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 54
Tags
  • new gene name
Green List (high evidence)
C8orf37
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Retinitis pigmentosa 64, 614500
Tags
Green List (high evidence)
CACNA1F
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • X-linked retinitis pigmentosa
Tags
Green List (high evidence)
CDHR1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-Rod Dystrophy, Recessive
  • Retinitis pigmentosa 65
  • Cone-rod dystrophy 15, 613660
Tags
Green List (high evidence)
CEP290
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Senior-Loken syndrome 6, 610189
  • Meckel syndrome 4, 611134
  • Leber congenital amaurosis 10, 611755
  • Joubert syndrome 5, 610188
  • Bardet-Biedl syndrome 14, 209900
Tags
Green List (high evidence)
CEP83
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nephronophthisis 18, MIM# 615862
  • MONDO:0014374
  • Retinal dystrophy
  • ID
Tags
Green List (high evidence)
CERKL
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 26, MIM# 608380
Tags
Green List (high evidence)
CFAP20
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa (MONDO:0019200), CFAP20-related
Tags
Green List (high evidence)
CHM
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Tags
Green List (high evidence)
CLN3
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Juvenile neuronal ceroid lipofuscinosis
Tags
Green List (high evidence)
CLRN1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 61, 614180
Tags
Green List (high evidence)
CNGA1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 49, 613756
Tags
Green List (high evidence)
CNGB1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 45, MIM#613767
Tags
Green List (high evidence)
COQ8B
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200
Tags
Green List (high evidence)
CRB1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pigmented paravenous chorioretinal atrophy, 172870
  • Leber congenital amaurosis 8, 613835
  • Retinitis pigmentosa-12, autosomal recessive, 600105
Tags
Green List (high evidence)
CRB1
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pigmented paravenous chorioretinal atrophy, 172870
  • Leber congenital amaurosis 8, 613835
  • Retinitis pigmentosa-12, autosomal recessive, 600105
Tags
Green List (high evidence)
CRX
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod retinal dystrophy-2, 120970
  • Leber congenital amaurosis 7, 613829
Tags
Green List (high evidence)
CWC27
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, 250410
Tags
Green List (high evidence)
CYP4V2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Bietti crystalline corneoretinal dystrophy, 210370
Tags
Green List (high evidence)
DHDDS
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Congenital disorder of glycosylation, type 1bb, MIM# 613861
Tags
Green List (high evidence)
DYNC2H1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • non-syndromic retinitis pigmentosa
Tags
Green List (high evidence)
EYS
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 25, 602772
Tags
Green List (high evidence)
FAM161A
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 28, 606068
  • Retinitis pigmentosa 28 MONDO:0011630
Tags
Green List (high evidence)
FAM57B
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cone-rod dystrophy 22, MIM# 619531
  • Maculopathy
Tags
  • new gene name
Green List (high evidence)
FLVCR1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
Tags
Green List (high evidence)
GUCY2D
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-rod dystrophy 6 (AD)
  • Leber congenital amaurosis 1, 204000
  • Retinitis pigmentosa
Tags
Green List (high evidence)
HGSNAT
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 73
Tags
Green List (high evidence)
HK1
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 79, MIM# 617460
Tags
Green List (high evidence)
IDH3A
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa, MIM#619007
  • Leber congenital amaurosis
Tags
Green List (high evidence)
IDH3B
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 46, 612572
Tags
Green List (high evidence)
IFT140
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 80, MIM# 617781
Tags
Green List (high evidence)
IFT172
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 71, MIM#616394
Tags
Green List (high evidence)
IMPDH1
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 10, 180105
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 11
Tags
Green List (high evidence)
IMPG1
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200
Tags
Green List (high evidence)
IMPG2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 56, 613581
  • Maculopathy, IMPG2 - related
  • Retinitis pigmentosa
Tags
Green List (high evidence)
KCNJ13
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber congenital amaurosis 16 MIM#614186
Tags
Green List (high evidence)
KIAA1549
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 86
Tags
Green List (high evidence)
KIZ
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 69, MIM# 615780
Tags
Green List (high evidence)
KLHL7
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 42, 612943
Tags
Green List (high evidence)
LCA5
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 5, 604537
Tags
Green List (high evidence)
LRAT
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 14
  • Retinitis pigmentosa, juvenile
  • Retinal dystrophy, early-onset severe, 613341
Tags
Green List (high evidence)
MAK
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 62, 614181
Tags
Green List (high evidence)
MERTK
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 38, MIM# 613862
Tags
Green List (high evidence)
MFRP
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
Tags
Green List (high evidence)
NEUROD1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Retinopathy
  • Permanent neonatal diabetes
Tags
Green List (high evidence)
NMNAT1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber congenital amaurosis 9 MIM#608553
Tags
Green List (high evidence)
NR2E3
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Enhanced S - cone syndrome (AR)
  • Retinitis pigmentosa 37 (AD and AR)
Tags
Green List (high evidence)
NR2E3
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Enhanced S - cone syndrome (AR)
  • Retinitis pigmentosa 37 (AD and AR)
Tags
Green List (high evidence)
NRL
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 27 (AD)
  • Retinal degeneration, autosomal recessive, clumped pigment type (AR)
Tags
Green List (high evidence)
NRL
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 27, 613750
Tags
Green List (high evidence)
OAT
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Gyrate atrophy of choroid and retina
Tags
Green List (high evidence)
OFD1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 23, 300424
  • Joubert syndrome 10, 300804
  • Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
Tags
Green List (high evidence)
PDE6A
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 43, 613810
Tags
Green List (high evidence)
PDE6B
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 40
  • Night blindness, congenital stationary, autosomal dominant 2
Tags
Green List (high evidence)
PDE6B
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 2, 163500
  • Retinitis pigmentosa 40
Tags
Green List (high evidence)
PLA2G5
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • [Fleck retina, familial benign], MIM# 228980
Tags
Green List (high evidence)
POMGNT1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 76, MIM#617123
Tags
Green List (high evidence)
PQLC2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, PQLC2-related
Tags
  • new gene name
Green List (high evidence)
PRCD
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 36, MIM# 610599
Tags
Green List (high evidence)
PROM1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Stargardt disease 4, 603786
  • Macular dystrophy, retinal, 2, 608051
  • Retinitis pigmentosa 41, 612095
  • Cone-rod dystrophy 12, 612657
Tags
Green List (high evidence)
PRPF3
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 18, MIM# 601414
Tags
Green List (high evidence)
PRPF31
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 11, 600138
Tags
  • SV/CNV
Green List (high evidence)
PRPF4
Retinitis pigmentosa_Autosomal Dominant v0.57
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 70, MIM# 615922
Tags
Green List (high evidence)
PRPF8
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 13, 600059
Tags
Green List (high evidence)
PRPH2
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 7
Tags
Green List (high evidence)
RAX2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa-95 (RP95), MIM#620102
Tags
Green List (high evidence)
RBP3
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 66, 615233
Tags
Green List (high evidence)
RBP4
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147
Tags
Green List (high evidence)
RCBTB1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies MIM#617175
Tags
Green List (high evidence)
RD3
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 12, 610612
Tags
Green List (high evidence)
RDH12
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 13, 612712
  • Retinitis Pigmentosa
Tags
Green List (high evidence)
RDH12
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 13, 612712
  • Retinitis Pigmentosa, Recessive
Tags
Green List (high evidence)
REEP6
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 77
Tags
Green List (high evidence)
RHO
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
  • Congenital Stationary Night Blindness
Tags
Green List (high evidence)
RHO
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
  • Retinitis punctata albescens
  • Congenital Stationary Night Blindness
Tags
Green List (high evidence)
RLBP1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis punctata albescens
  • Newfoundland rod - cone dystrophy
  • Fundus albipunctatus, 136880
  • Fundus albipunctatus
  • Bothnia retinal dystrophy
Tags
Green List (high evidence)
ROM1
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 7, digenic, 608133
Tags
Green List (high evidence)
RP1
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 1, 180100
Tags
Green List (high evidence)
RP1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 1, 180100
Tags
Green List (high evidence)
RP1L1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa
  • Occult macular dystrophy, 613587
Tags
Green List (high evidence)
RP2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis Pigmentosa, X-linked
  • Retinitis pigmentosa 2, 312600
Tags
Green List (high evidence)
RPE65
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 20
  • Leber congenital amaurosis 2, 204100
Tags
Green List (high evidence)
RPE65
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 20
  • Leber congenital amaurosis 2, 204100
Tags
Green List (high evidence)
RPGR
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy, X-linked, 1, 304020
  • Macular degeneration, X-linked atrophic, 300834
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
  • Retinitis pigmentosa 3, 300029
Tags
Green List (high evidence)
RPGRIP1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 6, 613826
  • Cone-rod dystrophy 13, 608194
Tags
Green List (high evidence)
SLC37A3
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC37A3-related
Tags
Green List (high evidence)
SNRNP200
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 33, 610359
Tags
Green List (high evidence)
SPATA7
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber Congenital Amaurosis
  • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
  • Leber congenital amaurosis 3
Tags
Green List (high evidence)
TMEM216
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, TMEM216-related
Tags
  • UTR
Green List (high evidence)
TOPORS
Retinitis pigmentosa_Autosomal Dominant v0.57
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 31, 609923
Tags
Green List (high evidence)
TRNT1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa and erythrocytic microcytosis
Tags
Green List (high evidence)
TTC8
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 51, 613464
  • Bardet-Biedl syndrome 8, 209900
Tags
Green List (high evidence)
TULP1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 15, 613843
  • Retinitis pigmentosa 14, 600132
Tags
Green List (high evidence)
USH2A
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 39, 613809
  • Usher syndrome, type 2A, 276901
Tags
Green List (high evidence)
USP45
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Lebers congenital amaurosis
Tags
Green List (high evidence)
ZNF408
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 72, MIM# 616469
Tags
Amber List (moderate evidence)
ADIPOR1
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • syndromic retinitis pigmentosa
  • non-syndromic autosomal dominant retinitis pigmentosa
Tags
Amber List (moderate evidence)
ADIPOR1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • syndromic retinitis pigmentosa
  • non-syndromic autosomal dominant retinitis pigmentosa
Tags
Amber List (moderate evidence)
AHR
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Retinitis pigmentosa 85
Tags
Amber List (moderate evidence)
ARL3
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 83
  • Joubert syndrome 35
Tags
Amber List (moderate evidence)
ARL6
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 55, 613575
  • Bardet-Biedl syndrome 3, 209900
Tags
Amber List (moderate evidence)
CEP162
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200, CEP162-related
Tags
Amber List (moderate evidence)
CLCC1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 32, MIM# 609913
Tags
Amber List (moderate evidence)
CRB2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Retinitis pigmentosa
Tags
Amber List (moderate evidence)
DHX38
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 84, MIM#618220
Tags
Amber List (moderate evidence)
EMC1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
Phenotypes
  • ?Retinitis pigmentosa
  • Cerebellar atrophy, visual impairment, and psychomotor retardation
Tags
Amber List (moderate evidence)
GDF6
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leber congenital amaurosis 17 MIM#615360
Tags
Amber List (moderate evidence)
GUCA1B
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 48, MIM#613827
Tags
  • founder
Amber List (moderate evidence)
IMPG1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200
  • Retinitis pigmentosa 91, MIM# 153870
Tags
Amber List (moderate evidence)
MVK
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Mevalonic aciduria
  • Hyper-IgD syndrome
Tags
Amber List (moderate evidence)
NEK2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
Phenotypes
  • ?Retinitis pigmentosa 67, 615565
Tags
Amber List (moderate evidence)
PDE6G
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 57, MIM#613582
Tags
Amber List (moderate evidence)
PRPF6
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 60, MIM# 613983
Tags
Amber List (moderate evidence)
SAG
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 47, MIM# 613758
Tags
  • founder
Amber List (moderate evidence)
SEMA4A
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 10, 610283
  • Retinitis pigmentosa 35, 610282
Tags
Amber List (moderate evidence)
SLC4A7
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC4A7-related
Tags
Amber List (moderate evidence)
VWA8
Retinitis pigmentosa_Autosomal Dominant v0.57
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa 97, MIM#620422
Tags
Amber List (moderate evidence)
ZNF513
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 58, 613617
Tags
Red List (low evidence)
ADGRA3
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, ADGRA3-related
Tags
Red List (low evidence)
CA4
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 17, 600852
Tags
  • disputed
Red List (low evidence)
CCT2
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber's congenital amaurosis
Tags
Red List (low evidence)
FSCN2
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 30 MIM#607921
  • Macular degeneration
Tags
Red List (low evidence)
HKDC1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Retinitis pigmentosa 92, MIM# 619614
Tags
Red List (low evidence)
PITPNM3
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 5, 600977
Tags
Red List (low evidence)
PMPCA
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2
Tags
Red List (low evidence)
PRKCG
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Retinitis pigmentosa 11 MIM#600138
Tags
Red List (low evidence)
RGR
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 44, 613769
Tags
  • disputed
Red List (low evidence)
RP9
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 9, 180104
Tags
Red List (low evidence)
SAG
Retinitis pigmentosa_Autosomal Dominant v0.57
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 47, MIM# 613758
Tags
Red List (low evidence)
SAMD11
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal recessive retinitis pigmentosa
Tags
Red List (low evidence)
SCAPER
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Literature
Phenotypes
  • Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Tags
Red List (low evidence)
SCLT1
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Nonsyndromic retinitis pigmentosa
Tags
Red List (low evidence)
SEMA4A
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 10, 610283
  • Retinitis pigmentosa 35, 610282
Tags
  • refuted
Red List (low evidence)
SLC39A12
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC39A12-related
Tags
Red List (low evidence)
SLC7A14
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 68, 615725 (3)
Tags
  • disputed
Red List (low evidence)
SPP2
Retinitis pigmentosa_Autosomal Dominant v0.57
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal dominant retinitis pigmentosa
Tags
Red List (low evidence)
WDR34
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa
Tags

Downloads

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  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
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