Hereditary ataxia with onset in adulthood
Gene: MFN2
More appropriate for CMT2 and mitochondrial panelsCreated: 27 Apr 2019, 7:39 p.m.
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 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.
Difficult one - AD and AR variants associated with CMT phenotype are very well described. OPA+ syndrome which includes cerebellar atrophy is limited to a single patient in the literature (we may have an additional family within our own patient cohort). Think ok for Green given the strong link with neurological disease in generalCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dominant optic atrophy plus, not listed in
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MFN2 were changed from Dominant optic atrophy plus to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260
Mode of inheritance for gene: MFN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MFN2 were changed from Dominant optic atrophy plus, not listed in to Dominant optic atrophy plus
Mode of pathogenicity for gene: MFN2 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
Gene: mfn2 has been classified as Green List (High Evidence).
Source London North GMS was added to MFN2.
Added phenotypes Dominant optic atrophy plus, not listed in for gene: MFN2
Source NHS GMS was added to MFN2.
gene: MFN2 was added gene: MFN2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MFN2 was set to