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Infantile 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

4 reviews

Alice Gardham (Genomics England)

Comment on list classification: Expert review green
Created: 19 Dec 2016, 3:52 p.m.
Created: 19 Dec 2016, 3:52 p.m.

Panel version: 0.13

Mervyn Thomas (University of Leicester)

Green List (high evidence)

Patients with GPR143 mutations would be expected to have features of albinism (such as asymmetric VEP, foveal hypoplasia etc) however in children often the electrodiagnostic testing can be inconclusive therefore nystagmus might be the only feature detectable on clinical examination.
Created: 28 Nov 2016, 8:18 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ocular albinism, type I

Publications

Created: 28 Nov 2016, 8:18 p.m.

Panel version: 0.11

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.
Created: 5 Sep 2016, 12:58 p.m.

Panel version: Imported from "Ocular and oculo-cutaneous albinism" panel version 0.8

Penny Clouston (Oxford)

Green List (high evidence)

Phenotypes
oculo-cutaneous albinism

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

Created: 5 Sep 2016, 12:42 p.m.

Panel version: Imported from "Ocular and oculo-cutaneous albinism" panel version 0.6

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
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ocular albinism, type I, Nettleship-Falls type, 300500
  • Nystagmus 6, congenital, X-linked, 300814
  • Ocular albinism, type I
OMIM
300808
Clinvar variants
Variants in GPR143
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.

21 Dec 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; Nystagmus 6, congenital, X-linked, 300814;Ocular albinism, type I

21 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GPR143 were set to 26160353; 26061757; 21423867; 21541274

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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)

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GPR143 was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GPR143 was added to Infantile nystagmuspanel. Sources: Radboud University Medical Center, Nijmegen