Description
This panel is used for clinical indication 'R262 Corneal dystrophy' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R262 Corneal dystrophy'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.


The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/658/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (05/08/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

2 reviewers

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Morag Shanks (Oxford Medical Genetics laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

22 Entities

22 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
22 Entitiess
Green Green List (high evidence)
CHST6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Macular corneal dystrophy 217800
Tags
Green Green List (high evidence)
COL17A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Epithelial recurrent erosion dystrophy 122400
Tags
Green Green List (high evidence)
COL8A2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1 136800
  • Corneal dystrophy, posterior polymorphous 2 609140
Tags
Green Green List (high evidence)
DCN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, congenital stromal 610048
Tags
Green Green List (high evidence)
GRHL2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 4 618031
Tags
Green Green List (high evidence)
GSN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Amyloidosis, Finnish type 105120
Tags
Green Green List (high evidence)
KERA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Cornea plana 2 217300
Tags
Green Green List (high evidence)
KRT12
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Meesmann corneal dystrophy 122100
Tags
Green Green List (high evidence)
KRT3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Meesmann corneal dystrophy 122100
Tags
Green Green List (high evidence)
LCAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Fish-eye disease 136120
  • Norum disease 245900
Tags
Green Green List (high evidence)
MIR184
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • EDICT syndrome 614303
Tags
Green Green List (high evidence)
OVOL2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 1 122000
Tags
Green Green List (high evidence)
PIKFYVE
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal fleck dystrophy 121850
Tags
Green Green List (high evidence)
PRDM5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Brittle cornea syndrome 614170
Tags
Green Green List (high evidence)
SLC4A11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 4 613268
  • Corneal endothelial dystrophy and perceptive deafness 217400
  • Corneal endothelial dystrophy, autosomal recessive 217700
Tags
Green Green List (high evidence)
STS
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
  • Wessex and West Midlands GLH
Phenotypes
  • Ichthyosis, X-linked
Tags
Green Green List (high evidence)
TACSTD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, gelatinous drop-like 204870
Tags
Green Green List (high evidence)
TCF4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 3, 613267
Tags
  • STR
Green Green List (high evidence)
TGFBI
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Groenouw type I 121900
  • Corneal dystrophy, Avellino type 607541
  • Corneal dystrophy, Thiel-Behnke type 602082
  • Corneal dystrophy, lattice type I 122200
  • Corneal dystrophy, Reis-Bucklers type 608470
  • Corneal dystrophy, epithelial basement membrane 121820
  • Corneal dystrophy, lattice type IIIA 608471
Tags
Green Green List (high evidence)
UBIAD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Schnyder type 121800
Tags
Green Green List (high evidence)
ZEB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 3 609141
  • Corneal dystrophy, Fuchs endothelial, 6 613270
Tags
Green Green List (high evidence)
ZNF469
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Brittle cornea syndrome 1 229200
Tags

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