Genomics England
GMS Panels
Panels
Genes and Entities

GPR143

G protein-coupled receptor 143
OMIM: 300808
PanelMode of inheritanceDetails
2 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nystagmus 6, congenital, X-linked, 300814, Ocular albinism, type I, Ocular albinism, type I, Nettleship-Falls type, 300500
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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