GPR143

G protein-coupled receptor 143
OMIM: 300808, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GPR143 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.3

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 1.21

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 1.41

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green GPR143 in Albinism or congenital nystagmus


Version 1.19
Latest signed off version: v1.2 (3 Mar 2020)

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 2.228
Latest signed off version: v2.195 (5 Aug 2021)

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 1.88
Latest signed off version: v1.3 (4 Mar 2020)

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 1.84

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