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  3. OCA2
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Structural eye disease

Gene: OCA2

Red List (low evidence)
OCA2 (OCA2 melanosomal transmembrane protein)
EnsemblGeneIds (GRCh38): ENSG00000104044
EnsemblGeneIds (GRCh37): ENSG00000104044
OMIM: 611409, Gene2Phenotype
OCA2 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
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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

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]

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Albinism, brown oculocutaneous, 203200
  • [Skin/hair/eye pigmentation 1, blue/nonblue eyes]
  • Albinism oculocutaneous, type II
  • [Skin/hair/eye pigmentation 1, blond/brown hair], 227220
  • Eye Disorders
OMIM
611409
Clinvar variants
Variants in OCA2
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to OCA2. Mode of inheritance for gene OCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Albinism, brown oculocutaneous, 203200; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; Albinism oculocutaneous, type II; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 for gene: OCA2

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: OCA2 was added gene: OCA2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OCA2 was set to Phenotypes for gene: OCA2 were set to Eye Disorders