Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v0.76 | SLC24A5 | Nicola Ragge reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | SLC24A5 | Ivone Leong edited their review of gene: SLC24A5: Changed phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | SLC24A5 | Ivone Leong reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | SLC24A5 |
Ivone Leong Source NHS GMS was added to SLC24A5. Mode of inheritance for gene SLC24A5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750 for gene: SLC24A5 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | SLC24A5 |
Ellen McDonagh gene: SLC24A5 was added gene: SLC24A5 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SLC24A5 was set to Phenotypes for gene: SLC24A5 were set to Eye Disorders |