CRYAA:Ensemblv90

crystallin alpha A
OMIM: 123580, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber CRYAA in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.17

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Anterior segment dysgenesis

Green CRYAA in Cataract


Level 2: Ophthalmological disorders
Version 0.396

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 9, multiple types, MIM# 604219

Green CRYAA in Mendeliome


Version 1.3802

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 9, multiple types, MIM# 604219

Green CRYAA in Fetal anomalies


Version 1.482

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cataract 9, multiple types, MIM# 604219

Amber CRYAA in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Anterior segment dysgenesis

Green CRYAA in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Cataract 9, multiple types, MIM# 604219