PanelApp (stage)
  1. Panels
  2. Retinitis pigmentosa_Autosomal Dominant
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

5 reviewers

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • 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 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 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)
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 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 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)
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)
IMPG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200
Tags
Green 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 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 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 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 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
1 review
1 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
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 13, 600059
Tags
Green 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 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 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 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)
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 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 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 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 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)
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)
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)
VWA8
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa 97, MIM#620422
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)
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)
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)
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)
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)
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 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 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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