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| Albinism or congenital nystagmus v0.17 | TULP1 | Jonathan Callaway reviewed gene: TULP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 15 613843 AR, Retinitis pigmentosa 14 600132 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.16 | TULP1 |
Ivone Leong Source Expert Review Amber was added to TULP1. Added phenotypes Leber congenital amaurosis 15 613843 AR; Retinitis pigmentosa 14 600132 AR for gene: TULP1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Albinism or congenital nystagmus v0.15 | TULP1 |
Ivone Leong gene: TULP1 was added gene: TULP1 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TULP1 were set to Leber congenital amaurosis 15 613843 AR; Retinitis pigmentosa 14 600132 AR |
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