PanelApp
  1. Panels
  2. Retinitis pigmentosa
Description
This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. 
Note: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.

Please consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.
Panel Activity

19 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Sarah Pantaleo (Victorian Clinical Genetics Services)

  • Arina Puzriakova (Genomics England)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Sarah Milton (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Eleanor Ludington (RMH clinical genetics)

152 Entities

125 reviewed, 109 green

List Entity Reviews Mode of inheritance Details
152 Entitiess
Green Green List (high evidence)
ABCA4
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 Green List (high evidence)
ABHD12
1 review
1 red 		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 Green List (high evidence)
AGBL5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 75 617023
Tags
Green Green List (high evidence)
AHI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • nonsyndromic retinitis pigmentosa
  • Joubert syndrome 17
Tags
Green Green List (high evidence)
AIPL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • AIPL1-related retinopathy (MONDO:0100438)
Tags
Green Green List (high evidence)
AMACR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Tags
Green Green List (high evidence)
ARHGEF18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 78 617433
Tags
Green Green List (high evidence)
ARL2BP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa with or without situs inversus, 615434
Tags
Green Green List (high evidence)
BBS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
BBS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Bardet-Biedl syndrome 2
  • Retinitis pigmentosa 74
Tags
Green Green List (high evidence)
BEST1
1 review
1 green 		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 Green List (high evidence)
C19orf44
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Late onset retinal dystrophy, MONDO:0019118
Tags
Green Green List (high evidence)
C1QTNF5
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 Green List (high evidence)
C2orf71
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 54
Tags
  • new gene name
Green Green List (high evidence)
C8orf37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Retinitis pigmentosa 64, 614500
Tags
Green Green List (high evidence)
CACNA1F
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • X-linked retinitis pigmentosa
Tags
Green Green List (high evidence)
CDHR1
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 Green List (high evidence)
CEP290
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 Green List (high evidence)
CEP83
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Nephronophthisis 18, MIM# 615862
  • MONDO:0014374
  • Retinal dystrophy
  • ID
Tags
Green Green List (high evidence)
CERKL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 26, MIM# 608380
Tags
Green Green List (high evidence)
CFAP20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa (MONDO:0019200), CFAP20-related
Tags
Green Green List (high evidence)
CHM
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 Green List (high evidence)
CLN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Juvenile neuronal ceroid lipofuscinosis
Tags
Green Green List (high evidence)
CLRN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 61, 614180
Tags
Green Green List (high evidence)
CNGA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 49, 613756
Tags
Green Green List (high evidence)
CNGB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 45, MIM#613767
Tags
Green Green List (high evidence)
COQ8B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200
Tags
Green Green List (high evidence)
CRB1
1 review
1 green 		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 Green List (high evidence)
CRX
1 review
1 green 		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 Green List (high evidence)
CWC27
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, 250410
Tags
Green Green List (high evidence)
CYP4V2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Bietti crystalline corneoretinal dystrophy, 210370
Tags
Green Green List (high evidence)
DHDDS
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 Green List (high evidence)
DYNC2H1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • non-syndromic retinitis pigmentosa
Tags
Green Green List (high evidence)
EYS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 25, 602772
Tags
Green Green List (high evidence)
FAM161A
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 Green List (high evidence)
FAM57B
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 Green List (high evidence)
FLVCR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
Tags
Green Green List (high evidence)
GUCY2D
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 Green List (high evidence)
HGSNAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 73
Tags
Green Green List (high evidence)
HK1
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 Green List (high evidence)
IDH3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa, MIM#619007
  • Leber congenital amaurosis
Tags
Green Green List (high evidence)
IDH3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 46, 612572
Tags
Green Green List (high evidence)
IDH3G
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa 99, MIM# 301148
Tags
Green Green List (high evidence)
IFT140
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 80, MIM# 617781
Tags
Green Green List (high evidence)
IFT172
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 71, MIM#616394
Tags
Green Green List (high evidence)
IMPDH1
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 Green List (high evidence)
IMPG2
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 Green List (high evidence)
KCNJ13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 16 MIM#614186
Tags
Green Green List (high evidence)
KIAA1549
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa 86 MONDO:0032834
Tags
Green Green List (high evidence)
KIZ
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 69, MIM# 615780
Tags
Green Green List (high evidence)
KLHL7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 42, 612943
Tags
Green Green List (high evidence)
LCA5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 5, 604537
Tags
Green Green List (high evidence)
LRAT
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 Green List (high evidence)
MAK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 62, 614181
Tags
Green Green List (high evidence)
MERTK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 38, MIM# 613862
Tags
Green Green List (high evidence)
MFRP
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 Green List (high evidence)
MT-ATP6
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TE
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TE-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TF
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TF-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TG
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TG-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TH
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TH-related
Tags
  • mtDNA
Green Green List (high evidence)
NEUROD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Retinopathy
  • Permanent neonatal diabetes
Tags
Green Green List (high evidence)
NMNAT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 9 MIM#608553
Tags
Green Green List (high evidence)
NR2E3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa 37 MONDO:0012625
Tags
Green Green List (high evidence)
NRL
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Enhanced S-cone syndrome 2, MIM# 621371
Tags
Green Green List (high evidence)
OAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Gyrate atrophy of choroid and retina
Tags
Green Green List (high evidence)
OFD1
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 Green List (high evidence)
PDE6A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 43, 613810
Tags
Green Green List (high evidence)
PDE6B
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • inherited retinal dystrophy MONDO:0019118
Tags
Green Green List (high evidence)
PLA2G5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • [Fleck retina, familial benign], MIM# 228980
Tags
Green Green List (high evidence)
POC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, POC5-related
Tags
Green Green List (high evidence)
POMGNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 76, MIM#617123
Tags
Green Green List (high evidence)
PQLC2
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 Green List (high evidence)
PRCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 36, MIM# 610599
Tags
Green Green List (high evidence)
PROM1
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 Green List (high evidence)
PRPF3
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 Green List (high evidence)
PRPF31
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 Green List (high evidence)
PRPF4
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 Green List (high evidence)
PRPF8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 13, MIM#600059
  • PRPF8-related retinopathy MONDO:0700234
Tags
Green Green List (high evidence)
PRPH2
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • PRPH2-related retinopathy MONDO:1040055
Tags
Green Green List (high evidence)
RAX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa-95 (RP95), MIM#620102
Tags
Green Green List (high evidence)
RBP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 66, 615233
Tags
Green Green List (high evidence)
RBP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147
Tags
Green Green List (high evidence)
RCBTB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies MIM#617175
Tags
Green Green List (high evidence)
RD3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 12, 610612
Tags
Green Green List (high evidence)
RDH12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 13, 612712
  • RDH12-related recessive retinopathy MONDO:0800099
Tags
Green Green List (high evidence)
REEP6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 77
Tags
Green Green List (high evidence)
RHO
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
  • inherited retinal dystrophy MONDO:0019118
Tags
Green Green List (high evidence)
RLBP1
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 Green List (high evidence)
ROM1
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 Green List (high evidence)
RP1
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 Green List (high evidence)
RP1L1
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 Green List (high evidence)
RP2
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 Green List (high evidence)
RPE65
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 Green List (high evidence)
RPGR
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 Green List (high evidence)
RPGRIP1
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 Green List (high evidence)
SLC37A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC37A3-related
Tags
Green Green List (high evidence)
SNRNP200
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 33, MIM#610359
  • SNRNP200-related dominant retinopathy MONDO:0800098
Tags
Green Green List (high evidence)
SPATA7
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 Green List (high evidence)
TBC1D32
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 100, MIM# 621280
Tags
Green Green List (high evidence)
TMEM216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, TMEM216-related
Tags
  • UTR
Green Green List (high evidence)
TOPORS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 31, MIM#609923
  • TOPORS-related retinopathy MONDO:0700233
Tags
Green Green List (high evidence)
TRNT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa and erythrocytic microcytosis
Tags
Green Green List (high evidence)
TTC8
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 Green List (high evidence)
TULP1
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 Green List (high evidence)
USH2A
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 Green List (high evidence)
USP45
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lebers congenital amaurosis
Tags
Green Green List (high evidence)
VWA8
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa 97, MIM#620422
Tags
Green Green List (high evidence)
ZNF408
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 72, MIM# 616469
Tags
Amber Amber List (moderate evidence)
ACTG1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200, ACTG1-related
Tags
Amber Amber List (moderate evidence)
ADIPOR1
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 Amber List (moderate evidence)
AHR
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Retinitis pigmentosa 85
Tags
Amber Amber List (moderate evidence)
ARL3
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 Amber List (moderate evidence)
ARL6
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 Amber List (moderate evidence)
CEP162
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200, CEP162-related
Tags
Amber Amber List (moderate evidence)
CLCC1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 32, MIM# 609913
Tags
Amber Amber List (moderate evidence)
CRB2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Retinitis pigmentosa
Tags
Amber Amber List (moderate evidence)
CREB3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal degeneration, MONDO:0004580, CREB3-related
Tags
  • founder
Amber Amber List (moderate evidence)
DHX38
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 84, MIM#618220
Tags
Amber Amber List (moderate evidence)
EMC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Retinitis pigmentosa
  • Cerebellar atrophy, visual impairment, and psychomotor retardation
Tags
Amber Amber List (moderate evidence)
GDF6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Leber congenital amaurosis 17 MIM#615360
Tags
Amber Amber List (moderate evidence)
GUCA1B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 48, MIM#613827
Tags
  • founder
Amber Amber List (moderate evidence)
IMPG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200
  • Retinitis pigmentosa 91, MIM# 153870
Tags
Amber Amber List (moderate evidence)
MT-TC
1 review
 MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TC-related
Tags
  • mtDNA
Amber Amber List (moderate evidence)
MVK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Mevalonic aciduria
  • Hyper-IgD syndrome
Tags
Amber Amber List (moderate evidence)
NEK2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Retinitis pigmentosa 67, 615565
Tags
Amber Amber List (moderate evidence)
PDE6G
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 57, MIM#613582
Tags
Amber Amber List (moderate evidence)
PRPF6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 60, MIM# 613983
Tags
Amber Amber List (moderate evidence)
SAG
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 47, MIM# 613758
Tags
  • founder
Amber Amber List (moderate evidence)
SEMA4A
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 Amber List (moderate evidence)
SLC4A7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC4A7-related
Tags
Amber Amber List (moderate evidence)
TRIM49
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • retinitis pigmentosa MONDO:0019200
Tags
Amber Amber List (moderate evidence)
ZNF513
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 58, 613617
Tags
Red Red List (low evidence)
ADGRA3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, ADGRA3-related
Tags
Red Red List (low evidence)
BAIAP3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200, BAIAP3-related
Tags
Red Red List (low evidence)
CA4
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 Red List (low evidence)
CCT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber's congenital amaurosis
Tags
Red Red List (low evidence)
FSCN2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 30 MIM#607921
  • Macular degeneration
Tags
Red Red List (low evidence)
HKDC1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 92, MIM# 619614
Tags
Red Red List (low evidence)
PITPNM3
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 Red List (low evidence)
PMPCA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2
Tags
Red Red List (low evidence)
PRKCG
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Retinitis pigmentosa 11 MIM#600138
Tags
Red Red List (low evidence)
RDH8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Stargardt disease 5, MIM# 621259
Tags
Red Red List (low evidence)
RGR
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 Red List (low evidence)
RP9
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 Red List (low evidence)
SAMD11
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal recessive retinitis pigmentosa
Tags
Red Red List (low evidence)
SCAPER
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Tags
Red Red List (low evidence)
SCLT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Nonsyndromic retinitis pigmentosa
Tags
Red Red List (low evidence)
SLC39A12
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC39A12-related
Tags
Red Red List (low evidence)
SLC7A14
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 68, 615725 (3)
Tags
  • disputed
Red Red List (low evidence)
SPP2
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 Red List (low evidence)
WDR34
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa
Tags

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