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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- GDL Corneal Abnormalities panel
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
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
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Version 3.10
Latest signed off version: v3.2
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- NHS GMS
- 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
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- 607541
- Corneal dystrophy, lattice type IIIA
- 608470
- Corneal dystrophy, lattice type I
- 122200
- Corneal dystrophy, Reis-Bucklers type
- 121900
- Corneal dystrophy, Groenouw type I
- Corneal dystrophy, epithelial basement membrane
- 608471
- Corneal dystrophy, Avellino type
- 121820
- Corneal dystrophy, Thiel-Behnke type
- 602082
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