Hereditary ataxia - adult onsetGene: MORC2
More appropriate for CMT panel. However there is a report of Spinal muscular atrophy like disorder with neuropathy, cerebellar atrophy and diaphragmatic paralysis in HGMD with an additional case report and some functional work which would be appropriate for an SMA/ congenital muscle / hypotonic baby panel. None of the phenotypes listed involve predominantly ataxia.
Created: 27 Apr 2019, 7:39 p.m.
Downgraded rating from Green to Amber, Green gene for childhood onset. 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 Amber
Created: 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.
Good evidence for missense variants in CMT (no ataxia). However, same Thr362Arg variant has been reported as a de novo event in early onset cerebellar ataxia in two different families. Cautiously Green for this panel
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Axonal type CMT disease type 2Z, 616688
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Source Expert Review Amber was added to MORC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mode of pathogenicity for gene: MORC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: MORC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: morc2 has been classified as Green List (High Evidence).
Source London North GMS was added to MORC2.
Added phenotypes Axonal type CMT disease type 2Z, 616688 for gene: MORC2
Source NHS GMS was added to MORC2.
gene: MORC2 was added gene: MORC2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MORC2 was set to