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Glaucoma (developmental)

Gene: GPR143

Red List (low evidence)

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

ocular albinism and nystagmus gene, no evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

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
Nystagmus 6, congenital, X-linked; Ocular albinism, type I, Nettleship-Falls type; 300814; 300500

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). ocular albinism and nystagmus gene, no evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

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
Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GPR143 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory