Genomics England
GMS Panels
Panels
Genes and Entities

ABCB6

ATP binding cassette subfamily B member 6 (Langereis blood group)
OMIM: 605452
PanelMode of inheritanceDetails
2 panels
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, isolated, with coloboma 7, 614497, [Blood group, Langereis system], 111600, Dyschromatosis universalis hereditaria 3, 615402