DDG2P
Gene: CRYBB1
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
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.
.Created: 27 Jul 2022, 1:47 p.m. | Last Modified: 27 Jul 2022, 1:47 p.m.
Panel Version: 2.76
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
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.
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
Tag watchlist was removed from gene: CRYBB1. Tag Q4_21_MOI was removed from gene: CRYBB1.
Tag Q4_21_MOI tag was added to gene: CRYBB1.
Phenotypes for gene: CRYBB1 were changed from CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC
Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC
Mode of inheritance for gene: CRYBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tag watchlist tag was added to gene: CRYBB1.
Rebecca Foulger: Original DDG2P rating: confirm
Added phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 for gene: CRYBB1
gene: CRYBB1 was added gene: CRYBB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYBB1 were set to 12360425; 17460281 Phenotypes for gene: CRYBB1 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544