1. Panels
  2. Ataxia - adult onset
  3. ELOVL5
Regions in panel
Prev Next

Ataxia - adult onset

Gene: ELOVL5

Green List (high evidence)
ELOVL5 (ELOVL fatty acid elongase 5)
EnsemblGeneIds (GRCh38): ENSG00000012660
EnsemblGeneIds (GRCh37): ENSG00000012660
OMIM: 611805, Gene2Phenotype
ELOVL5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Adult-onset disorder, at least 4 unrelated families reported.
Created: 12 Sep 2020, 3:29 a.m. | Last Modified: 12 Sep 2020, 3:29 a.m.
Panel Version: 0.105

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 38, MIM# 615957

Publications

Created: 12 Sep 2020, 3:29 a.m.
Last Modified: 12 Sep 2020, 3:29 a.m.
Panel version: 0.105

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 38, MIM#615957
OMIM
611805
Clinvar variants
Variants in ELOVL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ELOVL5 were changed from Spinocerebellar ataxia 38, 615957; Spinocerebellar ataxia 36 615957 to Spinocerebellar ataxia 38, MIM#615957

12 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elovl5 has been classified as Green List (High Evidence).

12 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ELOVL5 were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ELOVL5 was added gene: ELOVL5 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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 38, 615957; Spinocerebellar ataxia 36 615957