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Cataract
Gene: CRYBA4

CRYBA4 (crystallin beta A4)
EnsemblGeneIds (GRCh38): ENSG00000196431
EnsemblGeneIds (GRCh37): ENSG00000196431
OMIM: 123631, Gene2Phenotype
CRYBA4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital cataracts, at least 3 unrelated families reported.
Created: 24 Nov 2021, 7:47 a.m. | Last Modified: 24 Nov 2021, 7:47 a.m.

Panel Version: 0.301

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 23, MIM# 610425

Publications

Created: 24 Nov 2021, 7:47 a.m.
Last Modified: 24 Nov 2021, 7:47 a.m.
Panel version: 0.301

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 23, MIM# 610425

OMIM

Clinvar variants

Variants in CRYBA4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cryba4 has been classified as Green List (High Evidence).

24 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRYBA4 were changed from to Cataract 23, MIM# 610425

24 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRYBA4 were set to

24 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRYBA4 was added gene: CRYBA4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBA4 was set to Unknown