Structural eye disease
Gene: OCA2
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, brown oculocutaneous; Albinism oculocutaneous, type II; [Skin/hair/eye pigmentation 1, blond/brown hair]; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; 203200; 203200; 227220; 227220
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, brown oculocutaneous, 203200; Albinism oculocutaneous, type II; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]
Source NHS GMS was added to OCA2. Mode of inheritance for gene OCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Albinism, brown oculocutaneous, 203200; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; Albinism oculocutaneous, type II; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 for gene: OCA2
gene: OCA2 was added gene: OCA2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OCA2 was set to Phenotypes for gene: OCA2 were set to Eye Disorders