1. Panels
  2. Retinitis pigmentosa_Autosomal Dominant

Retinitis pigmentosa_Autosomal Dominant (Version 0.57)

Level 2: Ophthalmological disorders

Relevant disorders: Abnormal retinal morphology, HP:0000479
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause nonsyndromic autosomal dominant retinitis pigmentosa. It was developed for use in the Royal Melbourne Hospital ocular genetics clinic. It is a consensus panel used by VCGS.

Please consider the Retinitis Pigementosa Superpanel, the Syndromic Retinopathy and the Retinal Disorders Superpanel where inheritance pattern is unclear and/or additional features are present.
Panel Activity

6 reviewers

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

36 Entities

23 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
36 Entitiess
Green List (high evidence)
BEST1
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
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)
CRB1
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
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)
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 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 List (high evidence)
IMPG1
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)
KLHL7
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)
NR2E3
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
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)
PDE6B
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)
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 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 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 List (high evidence)
PRPF8
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
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)
RDH12
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)
RHO
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)
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 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 List (high evidence)
RPE65
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)
SNRNP200
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)
TOPORS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 31, 609923
Tags
Amber List (moderate evidence)
ADIPOR1
1 review
 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)
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 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 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 List (moderate evidence)
VWA8
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa 97, MIM#620422
Tags
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 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 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 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 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 List (low evidence)
SAG
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)
SEMA4A
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)
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

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