Ataxia - adult onset
Gene: ATP1A3
Variants in this gene are associated with a range of neurological phenotypes. Note that the p.Glu818Lys variant is recurrent in CAPOS.Created: 30 Mar 2021, 10:13 a.m. | Last Modified: 30 Mar 2021, 10:13 a.m.
Panel Version: 0.6954
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235; Polymicrogyria; Developmental and epileptic encephalopathy
Publications
Onset of ataxia is usually in infancy or childhood.
Sources: Expert listCreated: 16 Apr 2020, 10:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating hemiplegia of childhood 2 MIM#614820; CAPOS syndrome MIM#601338
gene: ATP1A3 was added gene: ATP1A3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A3 were set to CAPOS syndrome, 601338; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Dystonia-12, 128235; Alternating hemiplegia of childhood 2, 614820; DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)