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| Structural eye disease v1.113 | CRYBB1 |
Ivone Leong Tag for-review was removed from gene: CRYBB1. Tag Q1_22_NHS_review was removed from gene: CRYBB1. |
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| Structural eye disease v1.113 | CRYBB1 | Ivone Leong commented on gene: CRYBB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.112 | CRYBB1 |
Ivone Leong Source Expert Review Green was added to CRYBB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.106 | CRYBB1 | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CRYBB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | CRYBB1 | Nicola Ragge edited their review of gene: CRYBB1: Added comment: 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.; Changed publications to: 29386872, 31566446, 16110300; Changed phenotypes to: Cataract 17, multiple types, Cataract 17, multiple types 611544, 611544 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.30 | CRYBB1 | Ivone Leong commented on gene: CRYBB1: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.30 | CRYBB1 | Ivone Leong Tag for-review tag was added to gene: CRYBB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.30 | CRYBB1 | Ivone Leong Publications for gene: CRYBB1 were set to 29386872 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.29 | CRYBB1 | Nicola Ragge edited their review of gene: CRYBB1: Added comment: 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.; Changed rating: GREEN; Changed publications: 31566446, 16110300; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | CRYBB1 | Nicola Ragge reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 17, multiple types, 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CRYBB1 | Ivone Leong edited their review of gene: CRYBB1: Changed phenotypes: Cataract 17, multiple types, 611544 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CRYBB1 | Ivone Leong reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 3, multiple types, 601547; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | CRYBB1 |
Ivone Leong 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 |
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