ATP1A3

ATPase Na+/K+ transporting subunit alpha 3
OMIM: 182350
PanelMode of inheritanceDetails
8 panels
R-numbers: R56
Signed-off version 1.121
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
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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)
R-numbers: R57
Signed-off version 1.137
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RAPID-ONSET DYSTONIA-PARKINSONISM 128235, ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290
R-numbers: R59
Signed-off version 2.2
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)
R-numbers: R54
Signed-off version 2.13
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
R-numbers: R58
Signed-off version 2.178
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
R-numbers: R66
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia-12, 128235, Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome, 601338