DDG2P
Gene: CRYBB1

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CATARACT 17, MULTIPLE TYPES, MONOALLELIC, OMIM:611544 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:12360425). The DDG2P confidence category for the disease CATARACT 17, MULTIPLE TYPES, OMIM:611544 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:17460281).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
CATARACT 17, MULTIPLE TYPES, OMIM:611544; CATARACT 17, MULTIPLE TYPES, MONOALLELIC, OMIM:611544

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Eleanor Williams (Genomics England Curator)

This panel will be updated as a whole to be inline with the most recent version of the Developmental Disorders panel in Gene2Phenotype.

Therefore removing the GMS review tag. Genomics England clinicians note that the isolated cataract phenotype is does not align with the Paediatric Disorder super panel indication (of which DDG2P is a component) and is more likely to be investigated via the cataract panel. It therefore does not need to be added to any other component panels for this superpanel.

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Created: 27 Jul 2022, 1:47 p.m. | Last Modified: 27 Jul 2022, 1:47 p.m.

Panel Version: 2.76

Created: 27 Jul 2022, 1:47 p.m.
Last Modified: 27 Jul 2022, 1:47 p.m.
Panel version: 2.76

Ivone Leong (Genomics England Curator)

MOI should be changed back to "BOTH MONOALLELIC AND BIALLELIC" as the confirmed CATARACT 17, MULTIPLE TYPES (eye panel) is set to both.
Created: 27 Oct 2021, 12:13 p.m. | Last Modified: 27 Oct 2021, 12:13 p.m.

Panel Version: 2.50

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 27 Oct 2021, 12:13 p.m.
Last Modified: 27 Oct 2021, 12:13 p.m.
Panel version: 2.50

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: Changed MOI from 'BOTH MONOALLELIC AND BIALLELIC' to 'MONOALLELIC only, to match MOI of confirmed disorder (CATARACT 17, MULTIPLE TYPES, MONOALLELIC).
Created: 27 Nov 2019, 10:24 p.m. | Last Modified: 27 Nov 2019, 10:24 p.m.

Panel Version: 1.160

Added 'watchlist' tag to highlight different G2P ratings for different disorders.
Created: 27 Nov 2019, 10:23 p.m. | Last Modified: 27 Nov 2019, 10:23 p.m.

Panel Version: 1.159

As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES (biallelic, loss of function)
Created: 27 Nov 2019, 10:23 p.m. | Last Modified: 27 Nov 2019, 10:26 p.m.

Panel Version: 1.162

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.
Last Modified: 27 Nov 2019, 10:26 p.m.
Panel version: 1.159

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

CATARACT 17, MULTIPLE TYPES, MONOALLELIC
CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES, BIALLELIC

OMIM

600929

Clinvar variants

Variants in CRYBB1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene CRYBB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYBB1 were updated from 12360425; 17460281 to 17460281; 12360425

27 Jul 2022, Gel status: 3

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist was removed from gene: CRYBB1. Tag Q4_21_MOI was removed from gene: CRYBB1.

27 Oct 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_MOI tag was added to gene: CRYBB1.

27 Nov 2019, Gel status: 3