Glaucoma (developmental)
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
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
SLC45A2 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory