Hereditary ataxia - adult onsetGene: ELOVL5
On Oxford panel. Only 2 DM in HGMD published by same group
Created: 27 Apr 2019, 7:39 p.m.
Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
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.
At least four families in literature, functional evidence for gene and variants reported in original paper
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 38, 615957
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to ELOVL5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Gene: elovl5 has been classified as Green List (High Evidence).
Source London North GMS was added to ELOVL5.
Added phenotypes Spinocerebellar ataxia 38, 615957 for gene: ELOVL5
Source NHS GMS was added to ELOVL5.
Source Wessex and West Midlands GLH was added to ELOVL5.
Louise Daugherty: Comment on phenotypes: Implica
gene: ELOVL5 was added gene: ELOVL5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 36 615957 Mode of pathogenicity for gene: ELOVL5 was set to Other - please provide details in the comments