ATP1A3

ATPase Na+/K+ transporting subunit alpha 3
OMIM: 182350
PanelMode of inheritanceDetails
10 panels
R-numbers: R56
Signed-off version 3.12
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
R-numbers: R58
Signed-off version 5.0
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
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
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 4.0
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RAPID-ONSET DYSTONIA-PARKINSONISM 128235, ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
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 5.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating Hemiplegia of Childhood (AHC), intellectual disability
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polymicrogyria, MONDO:0000087, epilepsy, MONDO:0005027, developmental delay, Developmental and epileptic encephalopathy 99, OMIM:619606
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