Hereditary ataxia - adult onsetGene: PUM1
At least 1 family and 2 other unrelated individuals. Functional studies. SCA47. Not on Ox or Shef.
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.
Single paper but multiple families and variants reported - haploinsufficiency associated with a more severe form of disease including developmental delay and seizures
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 47, 617931
Mode of inheritance for gene: PUM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: pum1 has been classified as Green List (High Evidence).
Source London North GMS was added to PUM1.
Added phenotypes Spinocerebellar ataxia 47, 617931 for gene: PUM1
Source NHS GMS was added to PUM1.
gene: PUM1 was added gene: PUM1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PUM1 was set to