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  2. Albinism or congenital nystagmus
  3. GPR143
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Albinism or congenital nystagmus

Gene: GPR143

Green List (high evidence)
GPR143 (G protein-coupled receptor 143)
EnsemblGeneIds (GRCh38): ENSG00000101850
EnsemblGeneIds (GRCh37): ENSG00000101850
OMIM: 300808, Gene2Phenotype
GPR143 is in 6 panels

0 reviews

Details

Mode of Inheritance
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
OMIM
300808
Clinvar variants
Variants in GPR143
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GPR143 was added gene: GPR143 was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GPR143 were set to 26160353; 21423867; 26061757; 21541274 Phenotypes for gene: GPR143 were set to Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I; Ocular albinism, type I, Nettleship-Falls type, 300500