Structural eye disease
Gene: CRYAAEnsemblGeneIds (GRCh38): ENSG00000160202
EnsemblGeneIds (GRCh37): ENSG00000160202
OMIM: 123580, Gene2Phenotype
CRYAA is in 5 panels
4 reviews
Zornitza Stark (Australian Genomics)
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
Catherine Snow (Genomics England)
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
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Cataract 9, multiple types, OMIM:604219
- Anterior segment dysgenesis, MONDO:0019503
- microphthalmia, MONDO:0021129
- OMIM
- 123580
- Clinvar variants
- Variants in CRYAA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CRYAA were set to 30340470; 17296897; 18302245
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: CRYAA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)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