Albinism or congenital nystagmus

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Skin/hair/eye pigmentation 1, blue/nonblue eyes
  • Albinism, brown oculocutaneous
  • Albinism, oculocutaneous, type II
  • Skin/hair/eye pigmentation 1, blond/brown hair
  • Oculocutaneous Albinism
OMIM
611409
Clinvar variants
Variants in OCA2
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: OCA2 was added gene: OCA2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCA2 were set to Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous; Albinism, oculocutaneous, type II; Skin/hair/eye pigmentation 1, blond/brown hair; Oculocutaneous Albinism