Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Structural eye disease v0.76 GPR143 Nicola Ragge reviewed gene: GPR143: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nystagmus 6, congenital, X-linked, Ocular albinism, type I, Nettleship-Falls type, 300814, 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 GPR143 Ivone Leong reviewed gene: GPR143: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nystagmus 6, congenital, X-linked, 300814, Ocular albinism, type I, Nettleship-Falls type, 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.15 GPR143 Ivone Leong 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
Structural eye disease v0.2 GPR143 Ellen McDonagh 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