Structural eye disease
Gene: CRYBB2EnsemblGeneIds (GRCh38): ENSG00000244752
EnsemblGeneIds (GRCh37): ENSG00000244752
OMIM: 123620, Gene2Phenotype
CRYBB2 is in 5 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.
Panel Version: 3.79
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
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
Hannah Knight (NIHR BioResource - University of Cambridge)
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
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Cataract 3, multiple types, OMIM:601547
- OMIM
- 123620
- Clinvar variants
- Variants in CRYBB2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: CRYBB2. Tag Q4_23_NHS_review was removed from gene: CRYBB2.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to CRYBB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: CRYBB2. Tag Q4_23_NHS_review tag was added to gene: CRYBB2.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: crybb2 has been classified as Amber List (Moderate Evidence).
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: CRYBB2 were set to 29386872
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: CRYBB2 were changed from Cataract 3, multiple types, 601547 to Cataract 3, multiple types, OMIM:601547
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)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