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| Structural eye disease v0.76 | SLC45A2 | Nicola Ragge reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Albinism, oculocutaneous, type IV, [Skin/hair/eye pigmentation 5, black/nonblack hair], [Skin/hair/eye pigmentation 5, dark/fair skin], [Skin/hair/eye pigmentation 5, dark/light eyes] , 606574, 227240, 227240, 227240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | SLC45A2 | Ivone Leong edited their review of gene: SLC45A2: Changed phenotypes: Albinism, oculocutaneous, type IV, 606574, [Skin/hair/eye pigmentation 5, black/nonblack hair], [Skin/hair/eye pigmentation 5, dark/fair skin], [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SLC45A2 | Ivone Leong reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 33, 610359; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | SLC45A2 |
Ivone Leong Source NHS GMS was added to SLC45A2. Mode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation 5, dark/light eyes], 227240; [Skin/hair/eye pigmentation 5, dark/fair skin]; [Skin/hair/eye pigmentation 5, black/nonblack hair]; Albinism, oculocutaneous, type IV, 606574 for gene: SLC45A2 |
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| Structural eye disease v0.2 | SLC45A2 |
Ellen McDonagh gene: SLC45A2 was added gene: SLC45A2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SLC45A2 was set to Phenotypes for gene: SLC45A2 were set to Eye Disorders |
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