Genomics England
GMS Panels
Panels
Genes and Entities

AQP5

aquaporin 5
OMIM: 600442
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
Palmoplantar keratoderma, Bothnian type, OMIM:600231
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Palmoplantar keratoderma