Hereditary ataxia - adult onsetGene: ATP1A3
On Oxford and Sheffield panels. CAPOS syndrome is relevant - caused by a specific gain of function mutation. >3 families on OMIM and detected at NHNN.
Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Multiple families in the literature, positives within our own patient cohort. Associated with spectrum of disease, AHC at severe end, dystonia-12 more moderate
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome, 601338, Dystonia-12, 128235
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to ATP1A3.
Added phenotypes Alternating hemiplegia of childhood 2, 614820; CAPOS syndrome, 601338; Dystonia-12, 128235 for gene: ATP1A3
Source NHS GMS was added to ATP1A3.
Source Wessex and West Midlands GLH was added to ATP1A3.
Checked panel against panel constituents. Ready to promote to version 1.
Tag treatable tag was added to gene: ATP1A3.
gene: ATP1A3 was added gene: ATP1A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to 22842232; 22850527 Phenotypes for gene: ATP1A3 were set to Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)