Description
Corneal abnormalities inclusion criteria (29586)
- Bilateral corneal signs
- Prior consultation with ophthalmologist who has a specialist interest in corneal dystrophies

Corneal abnormalities exclusion criteria (29586)
- Corneal opacity likely secondary to inflammatory disease or trauma (including surgical)
- Age-related corneal endothelial failure
- Keratoconus

Prior genetic testing guidance (29586)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Corneal abnormalities prior genetic testing genes (29586)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - TGFBI (BIGH3) gene screening in anterior corneal dystrophies (which accounts for approximately 80% of such families)

Closing statement (29586)
These requirements will be kept under continual review during the main programme and may be subject to change.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Chris Campbell (NHS)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Chris Campbell (GEL)

    Group: Other
    Workplace: Other

42 genes

42 reviewed, 32 green

List Gene Reviews Mode of inheritance Details
42 genes
Green Green List (high evidence)
ADAMTS18
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
Green Green List (high evidence)
ALDH18A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • cutis laxa, corneal clouding, and mental retardation
  • Cutis laxa, autosomal dominant 3 616603
  • Cutis laxa, autosomal recessive, type IIIA 219150
Green Green List (high evidence)
B3GLCT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GDL Corneal Abnormalities panel
  • Expert Review Green
Phenotypes
  • Peters-plus syndrome 261540
Green Green List (high evidence)
CHRDL1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalocornea 1, X-linked 309300
  • X-linked megalocornea but can also cause lens subluxation or dislocation
Green Green List (high evidence)
CHST6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • Macular Corneal Dystrophy
  • Macular corneal dystrophy 217800
  • Paediatric Macular corneal dystrophy (type 1 and type 2), AR
Green Green List (high evidence)
COL8A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, 136800
  • early onset fuchs endothelial corneal dystrophy
Green Green List (high evidence)
DCN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Corneal dystrophy, congenital stromal 610048
Green Green List (high evidence)
GJA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • Oculodentodigital dysplasia 164200
  • Oculodentodigital dysplasia, autosomal recessive 257850
Green Green List (high evidence)
GSN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Amyloidosis, Finnish type 105120
Green Green List (high evidence)
HMX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • Oculoauricular syndrome 612109
Green Green List (high evidence)
KERA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • Cornea plana 2, autosomal recessive 217300
Green Green List (high evidence)
KRT12
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meesmann corneal dystrophy, 122100
Green Green List (high evidence)
KRT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meesmann corneal dystrophy, 122100
Green Green List (high evidence)
LTBP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750
Green Green List (high evidence)
MAF
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract, pulverulent or cerulean, with or without microcornea, 610202
  • Cataract 21, multiple types 610202
Green Green List (high evidence)
MIR184
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME
  • EDICT syndrome 614303
  • Keratoconus
Tags
  • locus-type-rna-micro
Green Green List (high evidence)
OVOL2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 1 122000
Tags
  • promoter
Green Green List (high evidence)
PIK3R1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • SHORT syndrome 269880
Green Green List (high evidence)
PIKFYVE
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Corneal fleck dystrophy 121850
  • Corneal fleck dystrophy, AD, paediatric
Green Green List (high evidence)
PITX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Anterior segment dysgenesis 4 137600 AD
  • Axenfeld-Rieger syndrome, type 1 180500 AD
  • Ring dermoid of cornea 180550
Green Green List (high evidence)
PRDM5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Brittle Cornea Syndrome
  • Brittle cornea syndrome 2, 614170
Green Green List (high evidence)
RAB18
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • Warburg micro syndrome 3 614222
Green Green List (high evidence)
RAB3GAP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • Warburg micro syndrome 1 600118
Green Green List (high evidence)
RAB3GAP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • Martsolf syndrome 212720
  • Warburg micro syndrome 2 614225
Green Green List (high evidence)
SLC16A12
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract, juvenile, with microcornea and glucosuria, 612018
Green Green List (high evidence)
SLC4A11
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Corneal Dystrophy, Recessive
  • Corneal endothelial dystrophy 2, autosomal recessive, 217700
  • Congenital Hereditary Endothelial Dystrophy
Green Green List (high evidence)
TACSTD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Corneal Dystrophy, Dominant/Recessive
  • Corneal dystrophy, gelatinous drop-like, 204870
Green Green List (high evidence)
TGFBI
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • GDL Corneal Abnormalities panel
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Corneal dystrophy, Avellino type 607541
  • Corneal dystrophy, epithelial basement membrane 121820
  • Corneal dystrophy, Groenouw type I 121900
  • Corneal dystrophy, lattice type I 122200
  • Corneal dystrophy, lattice type IIIA 608471
  • Corneal dystrophy, Reis-Bucklers type 608470
  • Corneal dystrophy, Thiel-Behnke type 602082
Green Green List (high evidence)
UBIAD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Schnyder Crystalline Corneal Dystrophy
  • Corneal dystrophy, Schnyder type 121800
  • Schnyder corneal dystrophy , AD, early onset
Green Green List (high evidence)
VSX1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Keratoconus 1 148300
Green Green List (high evidence)
ZEB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 3, 609141
  • Posterior polymorphous corneal dystrophy 3 (PPCD3), AD
  • Fuchs endothelial corneal dystrophy
Green Green List (high evidence)
ZNF469
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Brittle cornea syndrome, 229200
Amber Amber List (moderate evidence)
AGBL1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
Red Red List (low evidence)
ABCA3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • GDL Corneal Abnormalities panel
Phenotypes
  • Cataract-microcornea syndrome
Red Red List (low evidence)
APOA1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Corneal clouding, autosomal recessive
  • Familial LCAT deficiency
Red Red List (low evidence)
BEST1
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Best Vitelliform Macular Dystrophy (BVMD), Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC), Additional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber, Autosomal Recessive Bestrophinopathy (ARB)
  • Best macular dystrophy, 153700
Red Red List (low evidence)
CYP4V2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
Phenotypes
  • Bietti crystalline corneoretinal dystrophy 210370
Red Red List (low evidence)
GJA8
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cataract-Microcornea Syndrome
Red Red List (low evidence)
GLS
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • GDL Corneal Abnormalities panel
Phenotypes
  • Corneal dystrophy abstract
Tags
  • watchlist
Red Red List (low evidence)
LAMB2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GDL Corneal Abnormalities panel
Phenotypes
  • Pierson syndrome 609049
Red Red List (low evidence)
MED25
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GDL Corneal Abnormalities panel
Phenotypes
  • Basel-Vanagait-Smirin-Yosef syndrome 616449
Tags
  • founder-effect
Red Red List (low evidence)
PAX6
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Morning glory disc anomaly 120430
  • Aniridia 106210
  • Cataract with late-onset corneal dystrohpy 106210
  • Coloboma of optic nerve 120430
  • Coloboma ocular 120200
  • Foveal hypoplasia 1 136520
  • Gillespie syndrome 206700
  • Keratitis 148190
  • Optic nerve hypoplasia 165550
  • Peters anomaly 604229
  • Anterior segment dysgenesis 5, multiple subtypes 604229

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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