Genomics England
GMS Panels
Panels
Genes and Entities

AAGAB

alpha and gamma adaptin binding protein
OMIM: 614888
PanelMode of inheritanceDetails
2 panels
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Keratoderma, palmoplantar, punctate type IA, OMIM:148600, PPKP Buschke-Fischer-Brauer type, Punctate keratoderma and congenital dysplasia of the hip
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Palmoplantar keratoderma