| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v0.76 | ATOH7 | Nicola Ragge reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 1838, 8779, 22068589, 11493566 ; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.72 | ATOH7 | Ivone Leong Classified gene: ATOH7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.72 | ATOH7 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as there is sufficient evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.72 | ATOH7 | Ivone Leong Gene: atoh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ATOH7 | Ivone Leong reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 1838, 8779, 22068589, 11493566 ; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ATOH7 |
Ivone Leong Source NHS GMS was added to ATOH7. Added phenotypes Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900 for gene: ATOH7 Publications for gene ATOH7 were changed from 1838; 8779 to 11493566; 22068589; 1838; 8779 |
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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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