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| Structural eye disease v0.76 | TULP1 | Nicola Ragge reviewed gene: TULP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 15, Retinitis pigmentosa 14, 613843, 600132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | TULP1 | Ivone Leong edited their review of gene: TULP1: Changed phenotypes: Leber congenital amaurosis 15, Retinitis pigmentosa 14, 613843, 600132 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | TULP1 | Ivone Leong reviewed gene: TULP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, 203100, Albinism, oculocutaneous, type IB, 606952, Waardenburg syndrome/albinism, digenic, 103470, [Skin/hair/eye pigmentation 3, blue/green eyes], [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800, {Melanoma, cutaneous malignant, susceptibility to, 8}; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | TULP1 |
Ivone Leong Source NHS GMS was added to TULP1. Mode of inheritance for gene TULP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 600132; Retinitis pigmentosa 14; Leber congenital amaurosis 15; 613843 for gene: TULP1 |
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| Structural eye disease v0.2 | TULP1 |
Ellen McDonagh gene: TULP1 was added gene: TULP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TULP1 was set to Phenotypes for gene: TULP1 were set to Eye Disorders |
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