1. Panels
  2. Corneal dystrophy
The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Corneal dystrophy (Version 4.7)

Level 2: Ophthalmology

Relevant disorders: Corneal dystrophies, R262
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v4.0 (30 Apr 2025)
Previously signed off versions: v3.2, v2.0, v1.2
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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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.
Panel Activity

9 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Morag Shanks (Oxford Medical Genetics laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

28 Entities

28 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
28 Entitiess
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 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, OMIM:122400
Tags
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 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 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, OMIM:618031
Tags
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, OMIM:105120
Tags
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 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 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 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 List (high evidence)
LTBP2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750
  • Glaucoma 3, primary congenital, D, OMIM:613086
  • Weill-Marchesani syndrome 3, recessive, OMIM:614819
Tags
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 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 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 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 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 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 List (high evidence)
TCF4
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267
Tags
  • STR
Green List (high evidence)
TGFBI
3 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • 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 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 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 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
Amber List (moderate evidence)
AP1B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150
  • KID syndrome, MONDO:0018781
Tags
Amber List (moderate evidence)
PRDX3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Corneal dystrophy, punctiform and polychromatic pre-Descemet, OMIM:619871
  • corneal dystrophy, punctiform and polychromatic pre-descemet, MONDO:0859248
Tags
  • founder-effect
Red List (low evidence)
MIR184
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
Phenotypes
  • EDICT syndrome OMIM:614303, MONDO:0013678
Tags
  • locus-type-rna-micro
Red List (low evidence)
PDGFRB
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Tags
Red List (low evidence)
TCF4_CTG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267
  • corneal dystrophy, Fuchs endothelial, 3, MONDO:0013203
Tags
  • NGS Not Validated
  • STR
Red List (low evidence)
VSX1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Keratoconus 1, OMIM:148300, MONDO:0007851
Tags

Major version comments

  • 2025-04-30 16:11 Sarah Leigh (Genomics England Curator) promoted panel to 4.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

    2023-03-22 16:03 Catherine Snow (Genomics England) promoted panel to 3.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this

    2022-11-30 14:58 Catherine Snow (Genomics England) promoted panel to 2.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

    2019-08-05 09:36 Ivone Leong (Genomics England Curator) promoted panel to 1.0
    The content of this panel (version 0.4) was signed off under NHS Genomic Medicine Service governance on (05/08/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Downloads

Download lists

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

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