Genes in panel

STRs in panel

Prev Next

ATXN7_CAG 2

Regions in panel

Prev Next

None
MCDR3 2

Retinal disorders
Gene: GPR143

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

5 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green after review and advice from Chris Campbell: Sufficient cases (>3) to support causation for phenotypes relevant to panel.
Created: 21 Sep 2017, 8:21 a.m.

Comment on mode of inheritance: Updated MOI to match review by Chris Campbell: Nystagmus phenotype is consistent with XLR inheritance (female carriers unaffected). For ocular albinism, mosaic phenotypes have been reported in both female carriers and male probands.
Created: 21 Sep 2017, 8:14 a.m.

Comment on publications: OA1 (used in literature) is a synonym for GPR143.
Created: 21 Sep 2017, 7:59 a.m.

Created: 21 Sep 2017, 7:59 a.m.

Panel version: 1.60

Chris Campbell (GEL)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Ocular albinism, type I; Nystagmus

Publications

PMID::1179
3467, 8634
705, 1939
0656

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

Created: 21 Sep 2017, 6:36 a.m.

Panel version: 1.55

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Nystagmus 6, congenital, X-linked; Ocular albinism, type I, Nettleship-Falls type

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

Created: 17 Jan 2017, 4:30 p.m.

Panel version: 1.14

Mervyn Thomas (University of Leicester)

Green List (high evidence)

Mutations associated with foveal hypoplasia
Created: 28 Nov 2016, 8:46 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, 8:46 p.m.

Panel version: 1.13

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

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

OMIM

300808

Clinvar variants

Variants in GPR143

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GPR143. Rating Changed from Green List (high evidence) to Green List (high evidence)

21 Sep 2017, Gel status: 4