GPR143

G protein-coupled receptor 143
OMIM: 300808, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green GPR143 in Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Version 1.10	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ocular albinism, type I, Nettleship-Falls type, 300500 Nystagmus 6, congenital, X-linked, 300814 Ocular albinism, type I
Green GPR143 in Ocular and oculo-cutaneous albinism Version 1.23	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Ocular albinism, type I, Nettleship-Falls type, 300500
Red GPR143 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green GPR143 in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Nystagmus 6, congenital, X-linked, 300814 Ocular albinism, type I Ocular albinism, type I, Nettleship-Falls type, 300500
Green GPR143 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes 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
Red GPR143 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Red Phenotypes Nystagmus 6, congenital, X-linked, 300814 Ocular albinism, type I, Nettleship-Falls type, 300500 Eye Disorders
Green GPR143 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ocular albinism, type I, Nettleship-Falls type, 300500 Nystagmus 6, congenital, X-linked, 300814