Genomics England

ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OMIM:614820, CAPOS syndrome, OMIM:601338, DYSTONIA 12, OMIM:128235, Rapid-Onset Dystonia-Parkinsonism
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes DYSTONIA 12, 128235, Rapid-Onset Dystonia-Parkinsonism, Dystonia-12, 128235, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes RAPID-ONSET DYSTONIA-PARKINSONISM 128235, ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290
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, NOT imprinted	Phenotypes Alternating hemiplegia of childhood 2, Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly, Dystonia-12, CAPOS Syndrome (recurrent mutation)
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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
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, NOT imprinted	Phenotypes Alternating Hemiplegia of Childhood (AHC), intellectual disability
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Polymicrogyria, MONDO:0000087, epilepsy, MONDO:0005027, developmental delay, Developmental and epileptic encephalopathy 99, OMIM:619606
Green in Paroxysmal central nervous system disorders R-numbers: R66 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia-12, 128235, Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome, 601338