Cataract
Gene: CRYGA
CRYGA (crystallin gamma A)
EnsemblGeneIds (GRCh38): ENSG00000168582
EnsemblGeneIds (GRCh37): ENSG00000168582
OMIM: 123660, Gene2Phenotype
CRYGA is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000168582
EnsemblGeneIds (GRCh37): ENSG00000168582
OMIM: 123660, Gene2Phenotype
CRYGA is in 2 panels
1 review
Seb Lunke (Victorian Clinical Genetics Services)
Reported as potentially disease causing in multiple individuals from two seperate families, but in both cases variant is present in the general population (20 Hets for one variant, >1000 hets and 9 homs in other variant)
Sources: LiteratureCreated: 7 Jul 2020, 5:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Tags
- OMIM
- 123660
- Clinvar variants
- Variants in CRYGA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Jul 2020, Gel status: 1
Removed Tag, Added Tag
Seb Lunke (Victorian Clinical Genetics Services)Tag refuted was removed from gene: CRYGA. Tag disputed tag was added to gene: CRYGA.
7 Jul 2020, Gel status: 1
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag refuted tag was added to gene: CRYGA.
7 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: cryga has been classified as Red List (Low Evidence).
7 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Seb Lunke (Victorian Clinical Genetics Services)gene: CRYGA was added gene: CRYGA was added to Cataract. Sources: Literature Mode of inheritance for gene: CRYGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYGA were set to 30450742; 28839118 Review for gene: CRYGA was set to RED