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| Albinism or congenital nystagmus v0.17 | MYO5A | Jonathan Callaway reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 1 214450 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.16 | MYO5A |
Ivone Leong Source Expert Review Amber was added to MYO5A. Added phenotypes Griscelli syndrome, type 1 214450 AR for gene: MYO5A Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Albinism or congenital nystagmus v0.15 | MYO5A |
Ivone Leong gene: MYO5A was added gene: MYO5A was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to Griscelli syndrome, type 1 214450 AR |
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