Structural eye disease
Gene: GPR143
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nystagmus 6, congenital, X-linked; Ocular albinism, type I, Nettleship-Falls type; 300814; 300500
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500
Source NHS GMS was added to GPR143. Mode of inheritance for gene GPR143 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 for gene: GPR143
gene: GPR143 was added gene: GPR143 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: GPR143 was set to Phenotypes for gene: GPR143 were set to Eye Disorders