Structural eye disease
Gene: CRYBB1
Sun: simplex case with cataract coloboma with a rare missense variant. ; Jin et al. 2019 have published large dominant pedigree with cataract and microphthalmia with novel missense variant segregating.Willougby et al. reported a novel stoploss variant segregating in a family with cataract and microcornea.Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Sun: simplex case with cataract coloboma with a rare missense variant. ; Jin et al. 2019 have published large dominant pedigree with cataract and microphthalmia with novel missense variant segregating. Willougby reported a novel stoploss variant segregating in a family with cataract and microcornea.Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29
Sun: one family with colobomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 17, multiple types; Cataract 17, multiple types 611544; 611544
Publications
Variants in this GENE are reported as part of current diagnostic practice
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:32 a.m. | Last Modified: 8 Mar 2022, 10:32 a.m.
Panel Version: 1.113
This gene has been tagged "for-review" at the next GMS panel review and should be promoted to Green based on evidence provided by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust).Created: 20 Jan 2021, 10:32 a.m. | Last Modified: 20 Jan 2021, 10:32 a.m.
Panel Version: 1.30
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Sun: one family with colobomaCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 17, multiple types; 611544
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: CRYBB1. Tag Q1_22_NHS_review was removed from gene: CRYBB1.
Source Expert Review Green was added to CRYBB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: CRYBB1.
Tag for-review tag was added to gene: CRYBB1.
Publications for gene: CRYBB1 were set to 29386872
gene: CRYBB1 was added gene: CRYBB1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYBB1 were set to 29386872 Phenotypes for gene: CRYBB1 were set to Cataract 17, multiple types, 611544