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| Structural eye disease v1.50 | CRYAA | Ivone Leong Phenotypes for gene: CRYAA were changed from Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 to Cataract 9, multiple types, OMIM:604219; Anterior segment dysgenesis, MONDO:0019503; microphthalmia, MONDO:0021129 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.49 | CRYAA | Ivone Leong Added comment: Comment on publications: New publication added by Zornitza Stark (Australian Genomics) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.49 | CRYAA | Ivone Leong Publications for gene: CRYAA were set to 30340470; 17296897; 18302245 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.22 | CRYAA | Zornitza Stark reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32791987; Phenotypes: Anterior segment dysgenesis, microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.93 | CRYAA | Catherine Snow Added comment: Comment on mode of inheritance: OMIM with publication support has this both AD and AR therefore changing MOI to both monoallelic and biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.93 | CRYAA | Catherine Snow Mode of inheritance for gene: CRYAA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | CRYAA | Nicola Ragge reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17296897, 30340470 , 18302245 ; Phenotypes: Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CRYAA | Ivone Leong edited their review of gene: CRYAA: Changed phenotypes: Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CRYAA | Ivone Leong reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17296897, 30340470, 18302245 ; Phenotypes: CATARACT 16, MULTIPLE TYPES, 613763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | CRYAA |
Ivone Leong gene: CRYAA was added gene: CRYAA was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYAA were set to 30340470; 17296897; 18302245 Phenotypes for gene: CRYAA were set to Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 |
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