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Mendeliome

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, 3:31 a.m. | Last Modified: 12 Sep 2020, 3:31 a.m.
Panel Version: 0.4377

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 38, MIM# 615957

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • spinocerebellar ataxia type 38 MONDO:0014417
OMIM
611805
Clinvar variants
Variants in ELOVL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ELOVL5 were changed from to spinocerebellar ataxia type 38 MONDO:0014417

1 Apr 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ELOVL5 were set to

1 Apr 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ELOVL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ELOVL5 was added gene: ELOVL5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ELOVL5 was set to Unknown