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  2. Eye Anterior Segment Abnormalities
  3. CRYAA
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Eye Anterior Segment Abnormalities

Gene: CRYAA

Amber List (moderate evidence)
CRYAA (crystallin alpha A)
EnsemblGeneIds (GRCh38): ENSG00000160202
EnsemblGeneIds (GRCh37): ENSG00000160202
OMIM: 123580, Gene2Phenotype
CRYAA is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in this gene are associated with cataract.

Two unrelated individuals reported with elongation variants and a more complex eye phenotype, including bilateral microphthalmia and severe anterior segment dysgenesis, primarily characterized by congenital aphakia, microcornea, and iris hypoplasia/aniridia.
Sources: Expert Review
Created: 29 Dec 2020, 7:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anterior segment dysgenesis

Publications

Mode of pathogenicity
Other

Created: 29 Dec 2020, 7:31 a.m.

Panel version: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Anterior segment dysgenesis
OMIM
123580
Clinvar variants
Variants in CRYAA
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

29 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cryaa has been classified as Amber List (Moderate Evidence).

29 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cryaa has been classified as Amber List (Moderate Evidence).

29 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRYAA was added gene: CRYAA was added to Eye Anterior Segment Abnormalities. Sources: Expert Review Mode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYAA were set to 32791987 Phenotypes for gene: CRYAA were set to Anterior segment dysgenesis Mode of pathogenicity for gene: CRYAA was set to Other Review for gene: CRYAA was set to AMBER