Hereditary ataxia with onset in adulthood
Gene: MME
SCA43 but single family. Associated also with CMT. Not on Ox or Shef.Created: 27 Apr 2019, 7:39 p.m.
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH and London North GLH for GMS Neurology specialist test group for R54 agrees this gene should remain REDCreated: 19 Jun 2019, 5:03 p.m.
Review and rating submitted byJames Polke (London North GLH), on behalf of London North GLH for GMS Neurology specialist test groupCreated: 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.
Evidence good for CMT (no ataxia in phenotype) (OMIM 617017); however, only a single variant and family reported for SCA43. Not appropriate for this panel at this pointCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia type 43, 617018
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Publications for gene: MME were set to
Phenotypes for gene: MME were changed from Spinocerebellar ataxia type 43, 617018 to ?Spinocerebellar ataxia 43, OMIM:617018
Mode of inheritance for gene: MME was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London North GMS was added to MME.
Added phenotypes Spinocerebellar ataxia type 43, 617018 for gene: MME
Source NHS GMS was added to MME.
gene: MME was added gene: MME was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MME was set to