ATP1A3

ATPase Na+/K+ transporting subunit alpha 3
OMIM: 182350, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green ATP1A3 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Rapid-Onset Dystonia-Parkinsonism Dystonia-12 rapid-onset dystonia-parkinsonism alternating hemiplegia of childhood CAPOS syndrome
Green ATP1A3 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes DYSTONIA 12, 128235 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 Tags treatable
Green ATP1A3 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Rapid-Onset Dystonia-Parkinsonism Dystonia-12, 128235
Green ATP1A3 in Ataxia and cerebellar anomalies - narrow panel Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338) Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Green ATP1A3 in Auditory Neuropathy Spectrum Disorde Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes 601338 614820
Green ATP1A3 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338) Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Green ATP1A3 in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 4.26 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Polymicrogyria, MONDO:0000087 epilepsy, MONDO:0005027 developmental delay Developmental and epileptic encephalopathy 99, OMIM:619606
Red ATP1A3 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green ATP1A3 in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Dystonia-12, 128235 Alternating hemiplegia of childhood 2, 614820 CAPOS syndrome, 601338
Green ATP1A3 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OMIM:614820 CAPOS syndrome, OMIM:601338 DYSTONIA 12, OMIM:128235 Rapid-Onset Dystonia-Parkinsonism Tags treatable
Red ATP1A3 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes RAPID-ONSET DYSTONIA-PARKINSONISM ALTERNATING HEMIPLEGIA OF CHILDHOOD
Green ATP1A3 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes RAPID-ONSET DYSTONIA-PARKINSONISM 128235 ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290
Green ATP1A3 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Alternating hemiplegia of childhood 2 Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly Dystonia-12 CAPOS Syndrome (recurrent mutation)
Green ATP1A3 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Alternating Hemiplegia of Childhood (AHC), intellectual disability
Green ATP1A3 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338) Alternating hemiplegia of childhood 2, 614820 Dystonia-12, 128235 Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 CAPOS syndrome, 601338 DYSTONIA 12, 128235 Tags treatable
Green ATP1A3 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Alternating hemiplegia of childhood 2 OMIM:614820 alternating hemiplegia of childhood 2 MONDO:0013900 CAPOS syndrome OMIM:601338 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038 Dystonia-12 OMIM:128235 dystonia 12 MONDO:0007496
Green ATP1A3 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources PanelApp Expert Review Green London North GLH Phenotypes DYSTONIA 12, 128235 Rapid-Onset Dystonia-Parkinsonism Dystonia-12, 128235 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
Green ATP1A3 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Alternating hemiplegia of childhood 2, 614820 Dystonia-12, 128235 CAPOS syndrome, 601338