Structural eye disease
Gene: CRYAA
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.Created: 7 Jan 2021, 8:50 a.m. | Last Modified: 7 Jan 2021, 8:50 a.m.
Panel Version: 1.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment dysgenesis; microphthalmia
Publications
Mode of pathogenicity
Other
Comment on mode of inheritance: OMIM with publication support has this both AD and AR therefore changing MOI to both monoallelic and biallelic.Created: 9 Oct 2019, 1:18 p.m. | Last Modified: 9 Oct 2019, 1:18 p.m.
Panel Version: 0.93
Beby: one family with microphthalmia and coloboma, Song one family with microphthalmia, Richter one family with microcorneaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea); 604219
Publications
Comment on publications: New publication added by Zornitza Stark (Australian Genomics)Created: 18 Mar 2021, 4:46 p.m. | Last Modified: 18 Mar 2021, 4:46 p.m.
Panel Version: 1.49
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Beby: one family with microphthalmia and coloboma, Song one family with microphthalmia, Richter one family with microcorneaCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea); 604219
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CRYAA were changed from Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 to Cataract 9, multiple types, OMIM:604219; Anterior segment dysgenesis, MONDO:0019503; microphthalmia, MONDO:0021129
Publications for gene: CRYAA were set to 30340470; 17296897; 18302245
Mode of inheritance for gene: CRYAA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: CRYAA was added gene: CRYAA was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYAA were set to 30340470; 17296897; 18302245 Phenotypes for gene: CRYAA were set to Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219