Retinal disorders
Gene: GPR143
Comment on list classification: Updated rating from Red to Green after review and advice from Chris Campbell: Sufficient cases (>3) to support causation for phenotypes relevant to panel.Created: 21 Sep 2017, 8:21 a.m.
Comment on mode of inheritance: Updated MOI to match review by Chris Campbell: Nystagmus phenotype is consistent with XLR inheritance (female carriers unaffected). For ocular albinism, mosaic phenotypes have been reported in both female carriers and male probands.Created: 21 Sep 2017, 8:14 a.m.
Comment on publications: OA1 (used in literature) is a synonym for GPR143.Created: 21 Sep 2017, 7:59 a.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
Ocular albinism, type I; Nystagmus
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Nystagmus 6, congenital, X-linked; Ocular albinism, type I, Nettleship-Falls type
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to GPR143. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GPR143 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for GPR143 were set to Developmental macular and foveal dystrophy (foveal hypoplasia in the context of albinism); Eye Disorders; Ocular albinism, type I; Nystagmus; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500
Publications for GPR143 were set to 26160353; 26061757; 21423867; 21541274; 11793467; 8634705; 19390656
Phenotypes for GPR143 were set to Developmental macular and foveal dystrophy (foveal hypoplasia in the context of albinism); Eye Disorders; Ocular albinism, type I; Nystagmus
Phenotypes for gene GPR143 were set to Developmental macular and foveal dystrophy (foveal hypoplasia in the context of albinism); Eye Disorders
GPR143 was added to Posterior segment abnormalitiespanel. Sources: Eligibility statement prior genetic testing
GPR143 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
GPR143 was created by ellenmcdonagh