Genomics England

ATP1A1

ATPase Na+/K+ transporting subunit alpha 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Renal Hypomagnesemia Refractory Seizures and Intellectual Disability
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hypomagnesemia, Seizures, Intellectual disability
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	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: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hypomagnesemia, Seizures, Intellectual disability
Green in Renal tubulopathies R-numbers: R198 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hypomagnesemia, seizures, and mental retardation 2 618314, Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 4.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hypomagnesemia, seizures, and mental retardation 2 618314, Charcot-Marie-Tooth disease, axonal, type 2DD, 618036