Hereditary ataxia with onset in adulthood

Gene: ATP1A3

Green List (high evidence)

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.

I don't know

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.

Green List (high evidence)

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

Phenotypes
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