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| Structural eye disease v1.107 | CRYBB3 | Ivone Leong Classified gene: CRYBB3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.107 | CRYBB3 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.107 | CRYBB3 | Ivone Leong Gene: crybb3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | CRYBB3 | Nicola Ragge edited their review of gene: CRYBB3: Added comment: congenital/early onset cataract gene, no evidence for involvement in AMC - Zin et al. 2021 report a family with three members affected with paediatric cataract and microphthalmia with a missense variant in CRYBB3. They also refer to Sekeroglu et al. 2020 who described a variant affecting same residue in indiviidual affected by cataract and microphthalmia and his affected mother (cataracts).; Changed rating: AMBER; Changed publications to: 34356085, 33510601; Changed phenotypes to: Cataract 22, autosomal recessive, 609741, Cataract 22, autosomal recessive 609741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.87 | CRYBB3 | Arina Puzriakova Phenotypes for gene: CRYBB3 were changed from Cataract 22, autosomal recessive, 609741 to Cataract 22, OMIM:609741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | CRYBB3 | Nicola Ragge reviewed gene: CRYBB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 22, autosomal recessive, 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CRYBB3 | Ivone Leong edited their review of gene: CRYBB3: Changed phenotypes: Cataract 22, autosomal recessive, 609741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CRYBB3 | Ivone Leong reviewed gene: CRYBB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 39, multiple types, autosomal dominant, 615188; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | CRYBB3 |
Ivone Leong gene: CRYBB3 was added gene: CRYBB3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CRYBB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYBB3 were set to Cataract 22, autosomal recessive, 609741 |
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