Pigmentary skin disorders

Gene: OCA2

Green List (high evidence)

OCA2 (OCA2 melanosomal transmembrane protein)
EnsemblGeneIds (GRCh38): ENSG00000104044
EnsemblGeneIds (GRCh37): ENSG00000104044
OMIM: 611409, Gene2Phenotype
OCA2 is in 8 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: OCA2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • OCA2
  • Oculocutaneous albinism
  • ALBINISM, OCULOCUTANEOUS, TYPE II
OMIM
611409
Clinvar variants
Variants in OCA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes OCA2; ALBINISM, OCULOCUTANEOUS, TYPE II for gene: OCA2 Publications for gene OCA2 were changed from to 8302318

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to OCA2.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: OCA2 was added gene: OCA2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCA2 were set to Oculocutaneous albinism