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Glaucoma (developmental)

Gene: OCA2

Red List (low evidence)

OCA2 (OCA2 melanosomal transmembrane protein)
EnsemblGeneIds (GRCh38): ENSG00000104044
EnsemblGeneIds (GRCh37): ENSG00000104044
OMIM: 611409, Gene2Phenotype
OCA2 is in 8 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, brown oculocutaneous; Albinism oculocutaneous, type II; [Skin/hair/eye pigmentation 1, blond/brown hair]; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; 203200; 203200; 227220; 227220

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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, brown oculocutaneous, 203200; Albinism oculocutaneous, type II; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]

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)

OCA2 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory