Structural eye disease
Gene: CRYBB2
Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.Created: 19 Dec 2023, 6:13 p.m. | Last Modified: 19 Dec 2023, 6:13 p.m.
Panel Version: 3.61
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
As previously mentioned, PMID: 29386872 reported one family with coloboma and CRYBB2 variant (p.Gly149Val)
PMID: 25489230 reported a family with microphthalmia and cataract (All ten affected family members were found to have three nonsynonymous variants in the coding sequence of CRYBB2: p.R145W; p.Q147R; p.T150M). These three variants weren't in the six unaffected family members)
PMID: 21402992 reported a patient with cataract and microcornea and cataract with a variant at V146M
PMID: 2240043 / 9158139 - family with AD cataract with a nonsense variant in this gene. One girl found to be homozygous for this variant and had a more severe phenotype of bilateral microphthalmos and dense congenital cataractsCreated: 24 Nov 2023, 11:16 a.m. | Last Modified: 24 Nov 2023, 11:16 a.m.
Panel Version: 3.58
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 3, multiple types
Publications
Sun: one familywith colobomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 3, multiple types; 601547
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Sun: one familywith colobomaCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 3, multiple types; 601547
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_23_promote_green tag was added to gene: CRYBB2. Tag Q4_23_NHS_review tag was added to gene: CRYBB2.
Gene: crybb2 has been classified as Amber List (Moderate Evidence).
Publications for gene: CRYBB2 were set to 29386872
Phenotypes for gene: CRYBB2 were changed from Cataract 3, multiple types, 601547 to Cataract 3, multiple types, OMIM:601547
gene: CRYBB2 was added gene: CRYBB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYBB2 were set to 29386872 Phenotypes for gene: CRYBB2 were set to Cataract 3, multiple types, 601547