DDG2P
Gene: CRYBA4

CRYBA4 (crystallin beta A4)
EnsemblGeneIds (GRCh38): ENSG00000196431
EnsemblGeneIds (GRCh37): ENSG00000196431
OMIM: 123631, Gene2Phenotype
CRYBA4 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CRYBA4-related cataract with or wihout microcornea or microphthalmia are definitive, monoallelic_autosomal and undetermined non-loss-of-function (PMIDs: 15452067, 16960806, 20577656). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01130.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15452067;20577656;16960806).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426; MONDO:0012489; CRYBA4-related cataract with or wihout microcornea or microphthalmia; OMIM:610425.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT ZONULAR TYPE 2.
Created: 28 Jan 2019, 2:29 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:45 p.m.

DDG2P mode of pathogenicity for both disorders: dominant negative. Multiple ratings in DD-G2P download: Rated confirmed for CATARACT ZONULAR TYPE 2 610425, and rated possible for MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426

OMIM

123631

Clinvar variants

Variants in CRYBA4

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene