PanelApp (stage)
  1. Panels
  2. Vitreoretinopathy
Description
This is a consensus panel between VCGS and RMH.

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

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

18 Entities

18 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
18 Entitiess
Green Green List (high evidence)
ATOH7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900
  • microphthalmia
  • cataract
  • glaucoma
  • congenital retinal nonattachment
Tags
Green Green List (high evidence)
BEST1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitreoretinochoroidopathy, MIM# 193220
Tags
Green Green List (high evidence)
CAPN5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitreoretinopathy, neovascular inflammatory, MIM# 193235
Tags
Green Green List (high evidence)
COL18A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Knobloch syndrome, type 1, MIM# 267750
Tags
Green Green List (high evidence)
CTNNA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Familial exudative vitreoretinopathy
Tags
Green Green List (high evidence)
CTNNB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 7, MIM# 617572
  • Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Tags
Green Green List (high evidence)
FZD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 1, MIM# 133780
Tags
Green Green List (high evidence)
KIF11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950
Tags
Green Green List (high evidence)
LRP5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 4, MIM# 601813
Tags
Green Green List (high evidence)
NDP
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 2, X-linked, MIM# 305390
  • Norrie disease, MIM# 310600
Tags
Green Green List (high evidence)
NR2E3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Enhanced S-cone syndrome, MIM# 268100
Tags
Green Green List (high evidence)
P3H2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration MIM#614292
Tags
Green Green List (high evidence)
TSPAN12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 5, MIM# 613310
Tags
Green Green List (high evidence)
VCAN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wagner syndrome 1, MIM# 143200
Tags
  • SV/CNV
Green Green List (high evidence)
ZNF408
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 6, MIM# 616468
Tags
Amber Amber List (moderate evidence)
COL9A3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peripheral vitreoretinal degeneration and retinal detachment, AD
Tags
Amber Amber List (moderate evidence)
JAG1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Familial exudative vitreoretinopathy
Tags
Amber Amber List (moderate evidence)
KCNJ13
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Snowflake vitreoretinal degeneration, MIM# 193230
Tags

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