Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spinocerebellar ataxia 34
- OMIM
- 605512
- Clinvar variants
- Variants in ELOVL4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratoderma and erythrokeratodermas
- Intellectual disability
- Palmoplantar keratodermas
- Ichthyosis and erythrokeratoderma
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- Neurodegenerative disorders, adult onset
- DDG2P
- Hereditary ataxia, adult onset
- Hereditary ataxia
- Fetal anomalies
- Glaucoma (developmental)
- Ataxia and cerebellar anomalies - childhood onset
- Retinal disorders
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ELOVL4 was added gene: ELOVL4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELOVL4 were set to 24566826; 26010696 Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34