1. Panels
  2. Cone-rod Dystrophy

Cone-rod Dystrophy (Version 0.54)

Level 2: Ophthalmological disorders

Relevant disorders: Retinal dystrophy, HP:0000556
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and 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

8 reviewers

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Achchuthan Shanmugasundram (Genomics England)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

39 Entities

23 reviewed, 27 green

List Entity Reviews Mode of inheritance Details
39 Entitiess
Green List (high evidence)
ABCA4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 3, 604116
Tags
Green List (high evidence)
ADAM9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 9, 612775
Tags
Green List (high evidence)
AIPL1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 4, 604393
  • Cone-rod dystrophy, 604393
  • Retinitis pigmentosa, juvenile, 604393
Tags
Green List (high evidence)
C21orf2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal dystrophy with macular staphyloma, 617547
Tags
  • new gene name
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
  • Cone-rod dystrophy 16, 614500
  • Retinitis pigmentosa 64, 614500
Tags
Green List (high evidence)
CACNA1F
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 dystropy, X-linked, 3, 300476
Tags
Green List (high evidence)
CACNA2D4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal cone dystrophy 4, 610478
Tags
Green List (high evidence)
CDHR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 15, 613660
Tags
Green List (high evidence)
CERKL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy
Tags
Green List (high evidence)
CNGA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia 2MIM#216900
Tags
Green List (high evidence)
CNGB3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia-3, 262300
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
Tags
Green List (high evidence)
FAM57B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cone-rod dystrophy 22, MIM# 619531
  • Maculopathy
Tags
  • new gene name
Green List (high evidence)
GUCA1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone dystrophy-3, MIM# 602093
  • Cone-rod dystrophy 14, MIM# 602093
Tags
Green List (high evidence)
GUCY2D
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 6 MIM#601777
Tags
Green List (high evidence)
KCNV2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal cone dystrophy 3B MIM#610356
Tags
Green List (high evidence)
OPN1SW
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Colorblindness, tritan MIM#190900
Tags
Green List (high evidence)
PDE6C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone dystrophy 4 MIM#613093
Tags
Green List (high evidence)
POC1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 20, 615973
Tags
Green List (high evidence)
PROM1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 12, 612657
Tags
Green List (high evidence)
PRPH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Choroidal dystrophy, central areolar 2 MIM#613105
Tags
Green List (high evidence)
RAB28
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 18, 615374
Tags
Green List (high evidence)
RAX2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 11, MIM# 610381
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
  • 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
  • Cone-rod dystrophy 13, 608194
Tags
Green List (high evidence)
TTLL5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 19,615860
Tags
Green List (high evidence)
UBAP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cone-rod dystrophy (MONDO:0015993), UBAP1L-related
Tags
Amber List (moderate evidence)
IRX5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • cone dystrophy, MONDO:0000455
Tags
  • SV/CNV
Amber List (moderate evidence)
IRX6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • cone dystrophy, MONDO:0000455
Tags
  • SV/CNV
Amber List (moderate evidence)
MIR204
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Tags
Amber List (moderate evidence)
OPN1LW
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Blue cone monochromacy MIM#303700
  • Colourblindness, protan MIM#303900
Tags
  • SV/CNV
Amber List (moderate evidence)
OPN1MW
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Blue cone monochromacy MIM#303700
  • Colourblindness, deutan MIM#303800
Tags
  • SV/CNV
Amber List (moderate evidence)
SEMA4A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 10, 610283
Tags
Amber List (moderate evidence)
SLC6A6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350
  • Cone-rod retinopathy
  • cardiomyopathy
Tags
Amber List (moderate evidence)
UNC119
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 24, MIM# 620342
Tags
Red List (low evidence)
PDE6H
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinal Cone Dystrophy 3, 610024
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)
RIMS1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod dystrophy 7, 603649
Tags
Red List (low evidence)
VSX2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • smooth irides
  • lens subluxation
  • cone-rod dysfunction
  • high myopia
Tags

Downloads

Download lists

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

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