Ocular and oculo-cutaneous albinism

Gene: GPR143

Green List (high evidence)

GPR143 (G protein-coupled receptor 143)
EnsemblGeneIds (GRCh38): ENSG00000101850
EnsemblGeneIds (GRCh37): ENSG00000101850
OMIM: 300808, Gene2Phenotype
GPR143 is in 7 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene found in 2/4 original sources, and rated green by expert reviewer. More than 3 cases/families reported in OMIM for different variants in patients with Ocular albinism, type I, Nettleship-Falls type.
Created: 5 Sep 2016, 12:58 p.m.

Penny Clouston (Oxford)

Green List (high evidence)

Phenotypes
oculo-cutaneous albinism

Variants in this GENE are reported as part of current diagnostic practice

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
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ocular albinism, type I, Nettleship-Falls type, 300500
OMIM
300808
Clinvar variants
Variants in GPR143
Penetrance
Complete
Panels with this gene

History Filter Activity

13 Sep 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

13.09.2016: Panel internally revised after expert review, and approved to version 1.

5 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Sep 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500

5 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

GPR143 was added to Ocular and oculo-cutaneous albinismpanel. Source: Emory Genetics Laboratory Model 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)

20 Jul 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

GPR143 was created by oniblock

20 Jul 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

GPR143 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Radboud University Medical Center, Nijmegen