Hereditary ataxia

Gene: ELOVL5

Red List (low evidence)

ELOVL5 (ELOVL fatty acid elongase 5)
EnsemblGeneIds (GRCh38): ENSG00000012660
EnsemblGeneIds (GRCh37): ENSG00000012660
OMIM: 611805, Gene2Phenotype
ELOVL5 is in 5 panels

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: 2 mutations described, limited evidence for the 2nd
Created: 11 Jul 2016, 5:30 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Reasonable evidence for a single variant in multiple families. Second variant with very weak evidence. Mechanism of pathogenicity unknown.
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 36 (#615957)

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 36 (#615957)
OMIM
611805
Clinvar variants
Variants in ELOVL5
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

ELOVL5 was added to Hereditary ataxiapanel. Sources: Expert Review

24 Nov 2015, Gel status: 0

Created

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

ELOVL5 was created by jonathan.williams