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DDG2P

Gene: CRYBB2

Green List (high evidence)
CRYBB2 (crystallin beta B2)
EnsemblGeneIds (GRCh38): ENSG00000244752
EnsemblGeneIds (GRCh37): ENSG00000244752
OMIM: 123620, Gene2Phenotype
CRYBB2 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CRYBB2-related cataract, OMIM:601547 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 21245961;8812489;24312286;9158139;11424921;18449377;16179907;10634616;27385965).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3
The DDG2P confidence category for the disease CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 8812489;11424921). The DDG2P confidence category for the disease CATARACT, COPPOCK-LIKE, OMIM:604307 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.
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
CRYBB2-related cataract, OMIM:601547

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 5.10

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: loss of function, uncertain.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CRYBB2-related cataract, OMIM:601547
OMIM
123620
Clinvar variants
Variants in CRYBB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CRYBB2 were set to 8812489; 11424921

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRYBB2 were changed from CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547; CATARACT, COPPOCK-LIKE 604307 to CRYBB2-related cataract, OMIM:601547

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CRYBB2 were updated from 11424921; 8812489 to 8812489; 11424921

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547 for gene: CRYBB2 Publications for gene CRYBB2 were changed from to 11424921; 8812489

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CRYBB2 was added gene: CRYBB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE 604307