Hereditary ataxia with onset in adulthood
Gene: COA7
5 DM in HGMD with the Relevant phenotype. Higuchi Y et al.2018. identified 4 patients - the mutation segregated. Probable overlap with CMT and mitochondrial panels.Created: 27 Apr 2019, 7:39 p.m.
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.
Four families reported in the original paper - functional evidence for gene and patients show reduced complex I or complex IV activity in fibroblastsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia with axonal neuropathy
Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia with axonal neuropathy to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Mode of inheritance for gene: COA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: coa7 has been classified as Green List (High Evidence).
Source London North GMS was added to COA7.
Added phenotypes Spinocerebellar ataxia with axonal neuropathy for gene: COA7
Source NHS GMS was added to COA7.
gene: COA7 was added gene: COA7 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: COA7 was set to