Genomics England

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

Panel	Mode of inheritance	Details
Filter panels11 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 familial basilar migraine OMIM:602481, familial hemiplegic migraine type 2 OMIM:602481, migraine, familial hemiplegic, 2 MONDO:0011232, alternating hemiplegia of childhood OMIM:104290, alternating hemiplegia of childhood 1 MONDO:0007087
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency
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 familial basilar migraine 602481, familial hemiplegic migraine type 2, 602481, alternating hemiplegia of childhood 104290, Dystonia, migraine
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes ATP1A2-related epileptic encephalopathy, MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related, Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy
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 Alternating hemiplegia of childhood 1, 104290, Migraine, familial basilar, 602481, Migraine, familial hemiplegic, 2, 602481, benign familial infantile convulsions, epilepsy and migraine, occipitotemporal epilepsy, infantile epileptic syndrome
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Alternating hemiplegia of childhood 1, 104290, Familial hemiplegic migraine 2, 602481
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 Migraine, familial hemiplegic, 2 602481, Alternating hemiplegia of childhood 1, 104290
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations
Green in Paroxysmal central nervous system disorders R-numbers: R66 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Migraine, familial hemiplegic, 2, 602481, Migraine, familial basilar, 602481, alternating hemiplegia of childhood 104290
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations