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| Structural eye disease v0.76 | VIM | Nicola Ragge reviewed gene: VIM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 30, pulverulent, 116300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | ABCA4 | Nicola Ragge reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 3, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa 19, Stargardt disease 1, {Macular degeneration, age-related, 2}, 604116, 248200, 248200, 601718, 248200, 153800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | VIM | Ivone Leong edited their review of gene: VIM: Changed phenotypes: Cataract 30, pulverulent, 116300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | VIM | Ivone Leong reviewed gene: VIM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, 122000, Keratoconus 1, 148300, Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ABCA4 | Ivone Leong reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200, {Macular degeneration, age-related, 2}, 153800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ABCA4 |
Ivone Leong Source NHS GMS was added to ABCA4. Mode of inheritance for gene ABCA4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 3, 604116; Retinal dystrophy, early-onset severe; Fundus flavimaculatus; {Macular degeneration, age-related, 2}, 153800; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200 for gene: ABCA4 |
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| Structural eye disease v0.13 | VIM |
Ivone Leong gene: VIM was added gene: VIM was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: VIM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VIM were set to Cataract 30, pulverulent, 116300 |
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