GPR143

G protein-coupled receptor 143
OMIM: 300808, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green GPR143 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.11

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 1.24

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 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green GPR143 in Albinism or congenital nystagmus


Level 2: Ophthalmology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

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 2: Ophthalmology
Version 8.99
Latest signed off version: v8.0 (30 Apr 2025)

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


Level 2: Ophthalmology
Version 4.40
Latest signed off version: v4.0 (7 Aug 2024)

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