Structural eye disease
Gene: SLC45A2
ocular albinism and nystagmus gene, no evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). ocular albinism and nystagmus gene, no evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
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
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