Hereditary ataxiaGene: ATP2B3
Comment when marking as ready: Very limited evidence, single family and missense.
Created: 11 Jul 2016, 4:18 a.m.
Looks only single family so far, but functional evidence for variant
Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Spinocerebellar ataxia, X-linked 1
This gene has been classified as Red List (Low Evidence).
ATP2B3 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen