Hereditary ataxia with onset in adulthood
Gene: GDAP2
Only 2 unrelated patients in original report. Not on Ox or Shef.Created: 27 Apr 2019, 7:39 p.m.
Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
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.
Two families reported with different homozygous loss of function mutations and comparable phenotype. Functional evidence for gene involvement in the form of GDAP2 knockdown in drosophila. Cautiously GreenCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia, not listed in
Source Expert Review Amber was added to GDAP2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: GDAP2 were changed from Autosomal recessive spinocerebellar ataxia, not listed in to Autosomal recessive spinocerebellar ataxia
Mode of inheritance for gene: GDAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: gdap2 has been classified as Green List (High Evidence).
Gene: gdap2 has been classified as Green List (High Evidence).
Source London North GMS was added to GDAP2.
Added phenotypes Autosomal recessive spinocerebellar ataxia, not listed in for gene: GDAP2
Source NHS GMS was added to GDAP2.
gene: GDAP2 was added gene: GDAP2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GDAP2 was set to