Hereditary ataxia with onset in adulthood

Gene: MME

Red List (low evidence)

SCA43 but single family. Associated also with CMT. Not on Ox or Shef.

Created: 27 Apr 2019, 7:39 p.m.

Red List (low evidence)

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 RED

Created: 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 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.

Red List (low evidence)

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 point

Created: 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