Hereditary ataxia
Gene: ELOVL4
ELOVL4 (ELOVL fatty acid elongase 4)
EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 14 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. At least 2 variants reported in three unrelated cases, segregation demonstrated (two families without without skin lesions)Created: 15 Aug 2017, 10:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 34 133190
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spinocerebellar ataxia 34 133190
- OMIM
- 605512
- Clinvar variants
- Variants in ELOVL4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Ichthyosis and erythrokeratoderma
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Structural eye disease
- Retinal disorders
- Glaucoma (developmental)
- Palmoplantar keratoderma and erythrokeratodermas
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
History Filter Activity
15 Aug 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Aug 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)ELOVL4 was added to Hereditary ataxiapanel. Sources: Literature
15 Aug 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)ELOVL4 was created by sleigh