Hereditary ataxia with onset in adulthood
Gene: 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 seizuresCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
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