Hereditary ataxia with onset in adulthood
Gene: DARS2
In Oxford and Sheffield panels. 59 DM in HGMD.Ataxia is a feature. Overlap with Mitochondrial.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.
Multiple reports in literature, positives in our own cohortCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Source London North GMS was added to DARS2.
Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation for gene: DARS2
Source NHS GMS was added to DARS2.
Source Wessex and West Midlands GLH was added to DARS2.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
gene: DARS2 was added gene: DARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal