ATP1A2

ATPase Na+/K+ transporting subunit alpha 2
OMIM: 182340
PanelMode of inheritanceDetails
11 panels
R-numbers: R56
Signed-off version 2.1
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 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency
R-numbers: R57
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
familial basilar migraine 602481, familial hemiplegic migraine type 2, 602481, alternating hemiplegia of childhood 104290, Dystonia, migraine
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations
R-numbers: R59
Signed-off version 3.1
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: R54
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating hemiplegia of childhood 1, 104290, Familial hemiplegic migraine 2, 602481
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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 malformations
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations
R-numbers: R66
Signed-off version 2.1
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
R-numbers: R76
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
hypokalaemic periodic paralysis MONDO:0008223