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  2. Macular Dystrophy/Stargardt Disease

Macular Dystrophy/Stargardt Disease (Version 0.45)

Level 2: Ophthalmological disorders

Relevant disorders: Macular dystrophy, HP:0007754
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.

Consider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.
Panel Activity

5 reviewers

  • Chirag Patel (Genetic Health Queensland)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Paul De Fazio (Victorian Clinical Genetics Services)

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

35 Entities

17 reviewed, 29 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green List (high evidence)
ABCA4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 19, 601718
  • Fundus flavimaculatus, 248200
  • Retinal dystrophy, early-onset severe, 248200
  • Macular degeneration, age-related, 2, 153800
  • Cone-rod dystrophy 3, 604116
  • Stargardt disease 1, 248200
Tags
  • deep intronic
Green List (high evidence)
BEST1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Best macular dystrophy, 153700
  • Vitelliform macular dystrophy, adult-onset, 608161
  • Vitreoretinochoroidopathy, 193220
  • Bestrophinopathy, 611809
  • Maculopathy, bull's-eye
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
Tags
Green List (high evidence)
C1QTNF5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal degeneration, late-onset, autosomal dominant, 605670
  • Retinitis pigmentosa
Tags
Green List (high evidence)
CDH3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Tags
Green List (high evidence)
CDHR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Genetic macular dystrophy MONDO:0020242
Tags
Green List (high evidence)
CERKL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 26, 608380
Tags
Green List (high evidence)
CFH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Basal laminar drusen, 126700
Tags
Green List (high evidence)
CLEC3B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macular dystrophy, retinal, 4, OMIM #619977
Tags
  • founder
Green List (high evidence)
CNGB3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular degeneration, juvenile, 248200 -3
  • Achromatopsia-3, 262300
  • Stargardt Disease, Recessive
Tags
Green List (high evidence)
CRB1
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)
CTNNA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970
Tags
Green List (high evidence)
DRAM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 21, MIM#616502
Tags
Green List (high evidence)
EFEMP1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Inherited macular dystrophy (Doyne/dominant drusen)
Tags
Green List (high evidence)
ELOVL4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110
  • Stargardt disease 3, 600110
  • Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Tags
Green List (high evidence)
IMPG1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular dystrophy, vitelliform, 4, OMIM:616151
  • Retinitis pigmentosa, MONDO:0019200
Tags
Green List (high evidence)
IMPG2
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 56
  • Maculopathy, IMPG2 - related
Tags
Green List (high evidence)
MFSD8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, 610951
  • Macular dystrophy with central cone involvement, 616170
Tags
Green List (high evidence)
OTX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • autosomal-dominant pattern dystrophy of the retinal pigment epithelium
  • early onset retinal dystrophy
  • Microphthalmia, syndromic 5, 610125
Tags
Green List (high evidence)
PRDM13
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular dystrophy, North Carolina type, MIM#136550
  • Retinal dystrophy
  • Chorioretinal atrophy, progressive bifocal, MIM# 600790
Tags
  • 5'UTR
  • SV/CNV
Green List (high evidence)
PROM1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 41, 612095
  • Cone-rod dystrophy 12, 612657
  • Stargardt disease 4, 603786
  • Macular dystrophy, retinal, 2, 608051
Tags
Green List (high evidence)
PRPH2
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 18, MIM#608133
  • Macular dystrophy, vitelliform, 3, MIM#608161
  • Retinitis pigmentosa 7 and digenic form, MIM#608133
  • Choroidal dystrophy, central areolar 2, MIM#613105
  • Macular dystrophy, patterned, 1, MIM#169150
  • Retinitis punctata albescens, MIM#136880
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
Tags
Green List (high evidence)
RLBP1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Fundus albipunctatus
  • Newfoundland rod - cone dystrophy
  • Fundus albipunctatus, 136880
  • Bothnia retinal dystrophy
  • Retinitis punctata albescens
Tags
Green List (high evidence)
RP1L1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Occult macular dystrophy, 613587
Tags
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
  • Retinitis pigmentosa 3, 300029
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
  • Macular degeneration, X-linked atrophic, 300834
  • Cone-rod dystrophy, X-linked, 1, 304020
Tags
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 List (high evidence)
RS1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinoschisis, MIM#312700
  • Developmental macular and foveal dystrophy (males with foveal schisis)
Tags
Green List (high evidence)
SAMD7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macular dystrophy with or without cone dysfunction, MIM# 620762
Tags
Green List (high evidence)
TIMP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Sorsby fundus dystrophy, MIM# 136900
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)
RBP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 66, 615233
Tags
Amber List (moderate evidence)
TEAD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Sveinsson chorioretinal atrophy MIM#108985
Tags
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)
HMCN1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • 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

Downloads

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

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