Hereditary ataxia with onset in adulthood
Gene: FRMD4A
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 for GMS Neurology specialist test group for R54 agrees this gene should remain REDCreated: 19 Jun 2019, 4:59 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.
Single family reported with a singl variant, limited evidence provided for gene. Homozygous missense variant also reportde in a fetus with 'scan abnormalities', doesn't add sufficient evidenceCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Agenesis of corpus callosum with facial anomalies and cerebellar ataxia
Mode of inheritance for gene: FRMD4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Agenesis of corpus callosum with facial anomalies and cerebellar ataxia for gene: FRMD4A
Source NHS GMS was added to FRMD4A.
gene: FRMD4A was added gene: FRMD4A was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: FRMD4A was set to