Hereditary ataxia with onset in adulthood
Gene: CAPN1
Several families. Spasticity of lower limbs leading to gait problems. More suitable for an HSP panel. Not on Ox or Shef.Created: 27 Apr 2019, 7:39 p.m.
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 19 Sep 2019, 1:18 p.m. | Last Modified: 19 Sep 2019, 1:18 p.m.
Panel Version: 1.204
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.
Ataxia not found in all patients but does seem to be a relatively common findingCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia type 76, 616907
Gene: capn1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: CAPN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: capn1 has been classified as Amber List (Moderate Evidence).
Source London North GMS was added to CAPN1.
Added phenotypes Spastic paraplegia type 76, 616907 for gene: CAPN1
Source NHS GMS was added to CAPN1.
gene: CAPN1 was added gene: CAPN1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CAPN1 was set to