Structural eye disease
Gene: CRYBB3
congenital/early onset cataract gene, no evidence for involvement in AMC - Zin et al. 2021 report a family with three members affected with paediatric cataract and microphthalmia with a missense variant in CRYBB3. They also refer to Sekeroglu et al. 2020 who described a variant affecting same residue in indiviidual affected by cataract and microphthalmia and his affected mother (cataracts).Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
congenital/early onset cataract gene, no evidence for involvement in AMCCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 22, autosomal recessive; 609741; Cataract 22, autosomal recessive 609741
Publications
Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association.Created: 1 Mar 2022, 3:38 p.m. | Last Modified: 1 Mar 2022, 3:38 p.m.
Panel Version: 1.107
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). congenital/early onset cataract gene, no evidence for involvement in AMCCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 22, autosomal recessive; 609741
Variants in this GENE are reported as part of current diagnostic practice
Gene: crybb3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CRYBB3 were changed from Cataract 22, autosomal recessive, 609741 to Cataract 22, OMIM:609741
gene: CRYBB3 was added gene: CRYBB3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CRYBB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYBB3 were set to Cataract 22, autosomal recessive, 609741