Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: ELOVL5

Red List (low evidence)

ELOVL5 (ELOVL fatty acid elongase 5)
EnsemblGeneIds (GRCh38): ENSG00000012660
EnsemblGeneIds (GRCh37): ENSG00000012660
OMIM: 611805, Gene2Phenotype
ELOVL5 is in 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Spinocerebellar ataxia 36 (#615957)
OMIM
611805
Clinvar variants
Variants in ELOVL5
Penetrance
None
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: ELOVL5 was added gene: ELOVL5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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