Genomics England
GMS Panels
Panels
Genes and Entities

SLC45A2

solute carrier family 45 member 2
OMIM: 606202
PanelMode of inheritanceDetails
2 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculocutaneous albinism type IV,606574, skin/hair/eye pigmentation 5,227240, Albinism, oculocutaneous, type IV, Oculocutaneous Albinism
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OCA4, Oculocutaneous albinism, Predisposition to melanoma, ALBINISM, OCULOCUTANEOUS, TYPE IV