Genomics England
GMS Panels
Panels
Genes and Entities

ALPK1

alpha kinase 1
OMIM: 607347
PanelMode of inheritanceDetails
3 panels
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ROSAH syndrome, OMIM:614979
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ROSAH syndrome, OMIM:614979
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ROSAH syndrome, OMIM:614979