ATP1A1

ATPase Na+/K+ transporting subunit alpha 1
OMIM: 182310, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red ATP1A1 in Autism Version 0.20	review	Not set	Sources Expert Review Red SFARI
Amber ATP1A1 in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber DD-Gene2Phenotype Phenotypes Renal Hypomagnesemia Refractory Seizures and Intellectual Disability
Green ATP1A1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Green ATP1A1 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 2.25 Signed off v.2.23 on 16 Oct 2020 Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hypomagnesemia, seizures, and mental retardation 2 618314 Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Green ATP1A1 in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.274 Signed off v.2.2 on 13 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Hypomagnesemia Seizures Intellectual disability
Green ATP1A1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Expert Review Phenotypes Hypomagnesemia Seizures Intellectual disability
Green ATP1A1 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Green ATP1A1 in Severe Paediatric Disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 Hypomagnesemia, seizures, and mental retardation 2, 618314