Genomics England
GMS Panels
Panels
Genes and Entities

ATP1A1

ATPase Na+/K+ transporting subunit alpha 1
OMIM: 182310
PanelMode of inheritanceDetails
4 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypomagnesemia, Seizures, Intellectual disability
Green
in Hereditary neuropathy NOT PMP22 copy number
R-numbers: R78
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypomagnesemia, Seizures, Intellectual disability
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypomagnesemia, seizures, and mental retardation 2 618314, Charcot-Marie-Tooth disease, axonal, type 2DD, 618036