PanelApp (stage)
  1. Panels
  2. Corneal Dystrophy
Description
This panel was developed and is maintained by VCGS.

The corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. 

This panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.
Panel Activity

4 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

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

30 Entities

30 reviewed, 24 green

List Entity Reviews Mode of inheritance Details
30 Entitiess
Green Green List (high evidence)
CHRDL1
1 review
1 green 		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
  • Literature
Phenotypes
  • Megalocornea OMIM# 309300
Tags
Green Green List (high evidence)
CHST6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Tags
Green Green List (high evidence)
COL17A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epithelial recurrent erosion dystrophy, MIM# 122400
Tags
Green Green List (high evidence)
COL8A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800
  • Corneal dystrophy, posterior polymorphous 2, MIM# 609140
Tags
Green Green List (high evidence)
CYP4V2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bietti crystalline corneoretinal dystrophy, MIM# 210370
Tags
Green Green List (high evidence)
DCN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, congenital stromal, MIM# 610048
Tags
Green Green List (high evidence)
FECD3
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 3 MIM#613267
Tags
Green Green List (high evidence)
GRHL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 4, MIM# 618031
Tags
  • deep intronic
Green Green List (high evidence)
GSN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyloidosis, Finnish type, MIM# 105120
Tags
Green Green List (high evidence)
KERA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornea plana 2, autosomal recessive, MIM# 217300
Tags
Green Green List (high evidence)
KRT12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meesmann corneal dystrophy 1, MIM# 122100
Tags
Green Green List (high evidence)
KRT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meesmann corneal dystrophy 2, MIM# 618767
Tags
Green Green List (high evidence)
LCAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Norum disease, MIM# 245900
Tags
Green Green List (high evidence)
MCOLN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lisch epithelial corneal dystrophy, OMIM# 620763
Tags
Green Green List (high evidence)
OVOL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 1, MIM# 122000
Tags
  • 5'UTR
Green Green List (high evidence)
PIKFYVE
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal fleck dystrophy, MIM# 121850
Tags
Green Green List (high evidence)
PRDM5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brittle cornea syndrome 2, MIM# 614170
Tags
Green Green List (high evidence)
SLC4A11
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268
  • Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
  • Corneal endothelial dystrophy, autosomal recessive, MIM# 217700
Tags
Green Green List (high evidence)
STS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis, X-linked, MIM# 308100
Tags
Green Green List (high evidence)
TACSTD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, gelatinous drop-like, MIM# 204870
Tags
Green Green List (high evidence)
TGFBI
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, multiple types, MONDO:0000764
Tags
Green Green List (high evidence)
UBIAD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, Schnyder type, MIM# 121800
Tags
Green Green List (high evidence)
ZEB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270
  • Corneal dystrophy, posterior polymorphous, 3, MIM# 609141
Tags
Green Green List (high evidence)
ZNF469
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brittle cornea syndrome 1, MIM# 229200
Tags
Amber Amber List (moderate evidence)
VSX1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Keratoconus 1, MIM# 148300
Tags
Red Red List (low evidence)
FOXE3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Tags
Red Red List (low evidence)
MAF
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 21, multiple types, MIM# 610202
Tags
Red Red List (low evidence)
PITX2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 4, MIM# 137600
Tags
Red Red List (low evidence)
PLCB3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961
Tags
No list No list
TCF4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 3, MIM# 613267
Tags
  • STR

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