Genomics England
GMS Panels
Panels
Genes and Entities

OCA2

OCA2 melanosomal transmembrane protein
OMIM: 611409
PanelMode of inheritanceDetails
2 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
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
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OCA2, Oculocutaneous albinism, ALBINISM, OCULOCUTANEOUS, TYPE II