ATP1A3

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green ATP1A3 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	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 1.83	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 1.152	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 Level 2: Neurology Version 8.67 Latest signed off version: v8.0 (30 Apr 2025) 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 1.10	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 1.344	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 2: Neurology Version 7.38 Latest signed off version: v7.0 (30 Oct 2024) 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
Green ATP1A3 in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Neurology Version 8.16 Latest signed off version: v8.0 (30 Apr 2025)	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
Amber ATP1A3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Developmental and epileptic encephalopathy 99, OMIM:619606 Polymicrogyria
Green ATP1A3 in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 8.147 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders 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 Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 8.26 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Neurology Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	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 Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	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