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| Structural eye disease v0.76 | CA4 | Nicola Ragge reviewed gene: CA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 17, 600852; 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 v0.38 | CA4 | Ivone Leong reviewed gene: CA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 17, 600852; 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 | CA4 |
Ivone Leong Source NHS GMS was added to CA4. Mode of inheritance for gene CA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 17, 600852 for gene: CA4 |
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| 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 v0.2 | CA4 |
Ellen McDonagh gene: CA4 was added gene: CA4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CA4 was set to Phenotypes for gene: CA4 were set to Eye Disorders |
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| Structural eye disease v0.2 | ABCA4 |
Ellen McDonagh gene: ABCA4 was added gene: ABCA4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ABCA4 was set to Phenotypes for gene: ABCA4 were set to Eye Disorders |
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