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| Structural eye disease v0.76 | CHMP4B | Nicola Ragge reviewed gene: CHMP4B: Rating: RED; Mode of pathogenicity: ; Publications: 17701905; Phenotypes: Cataract 31, multiple types, 605387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | CHM | Nicola Ragge reviewed gene: CHM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Choroideremia, 303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CHMP4B | Ivone Leong edited their review of gene: CHMP4B: Changed phenotypes: Cataract 31, multiple types, 605387 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CHMP4B | Ivone Leong reviewed gene: CHMP4B: Rating: RED; Mode of pathogenicity: ; Publications: 17701905; Phenotypes: Megalocornea 1, X-linked, 309300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | CHM | Ivone Leong reviewed gene: CHM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Choroideremia, 303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | CHM |
Ivone Leong Source NHS GMS was added to CHM. Mode of inheritance for gene CHM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Choroideremia, 303100 for gene: CHM |
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| Structural eye disease v0.13 | CHMP4B |
Ivone Leong gene: CHMP4B was added gene: CHMP4B was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CHMP4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHMP4B were set to 17701905 Phenotypes for gene: CHMP4B were set to Cataract 31, multiple types, 605387 |
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| Structural eye disease v0.2 | CHM |
Ellen McDonagh gene: CHM was added gene: CHM was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CHM was set to Phenotypes for gene: CHM were set to Eye Disorders |
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| Structural eye disease v0.2 | ATOH7 |
Ellen McDonagh gene: ATOH7 was added gene: ATOH7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATOH7 were set to 1838; 8779 Phenotypes for gene: ATOH7 were set to AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment |
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