Infantile nystagmus
Gene: OCA2
OCA2 (OCA2 melanosomal transmembrane protein)
EnsemblGeneIds (GRCh38): ENSG00000104044
EnsemblGeneIds (GRCh37): ENSG00000104044
OMIM: 611409, Gene2Phenotype
OCA2 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000104044
EnsemblGeneIds (GRCh37): ENSG00000104044
OMIM: 611409, Gene2Phenotype
OCA2 is in 7 panels
2 reviews
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 reported in OMIM for different variants in patients with Albinism, oculocutaneous, type II from different ethnicities.Created: 5 Sep 2016, 3:27 p.m.
Penny Clouston (Oxford)
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Oculocutaneous Albinism
- Albinism, brown oculocutaneous
- Albinism, oculocutaneous, type II
- Skin/hair/eye pigmentation 1, blond/brown hair
- Skin/hair/eye pigmentation 1, blue/nonblue eyes
- OMIM
- 611409
- Clinvar variants
- Variants in OCA2
- Penetrance
- Complete
- 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.
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: 0
Created
Ellen McDonagh (Genomics England Curator)OCA2 was created by ellenmcdonagh
19 Dec 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)OCA2 was added to Infantile nystagmuspanel. Sources: Expert Review Green