ATP1A2

ATPase Na+/K+ transporting subunit alpha 2
OMIM: 182340
PanelMode of inheritanceDetails
11 panels
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
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
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
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
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations
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
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
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
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
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations