Structural eye disease
Gene: CRYBB1

CRYBB1 (crystallin beta B1)
EnsemblGeneIds (GRCh38): ENSG00000100122
EnsemblGeneIds (GRCh37): ENSG00000100122
OMIM: 600929, Gene2Phenotype
CRYBB1 is in 5 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Sun: simplex case with cataract coloboma with a rare missense variant. ; Jin et al. 2019 have published large dominant pedigree with cataract and microphthalmia with novel missense variant segregating.Willougby et al. reported a novel stoploss variant segregating in a family with cataract and microcornea.
Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.

Panel Version: 1.101

Sun: simplex case with cataract coloboma with a rare missense variant. ; Jin et al. 2019 have published large dominant pedigree with cataract and microphthalmia with novel missense variant segregating. Willougby reported a novel stoploss variant segregating in a family with cataract and microcornea.
Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.

Panel Version: 1.29

Sun: one family with coloboma
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataract 17, multiple types; Cataract 17, multiple types 611544; 611544

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 1.101

Ivone Leong (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:32 a.m. | Last Modified: 8 Mar 2022, 10:32 a.m.

Panel Version: 1.113

This gene has been tagged "for-review" at the next GMS panel review and should be promoted to Green based on evidence provided by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust).
Created: 20 Jan 2021, 10:32 a.m. | Last Modified: 20 Jan 2021, 10:32 a.m.

Panel Version: 1.30

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Sun: one family with coloboma
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataract 17, multiple types; 611544

Publications

29386872

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 1.113

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Cataract 17, multiple types, 611544

OMIM

600929

Clinvar variants

Variants in CRYBB1

Penetrance

None

Publications

Panels with this gene