Hereditary ataxia with onset in adulthood
Gene: ELOVL4EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 14 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In Sheffield panel. 12 DM in HGMD - 4 with an ataxia phenotype. Overlap with eye disorders (macular degeneration).Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Also associated with AD Stargardt (LoF) and AR Ichthyosis, spastic quafriplegia and MR. Looks like at least four families in lit (two share the same variant) with SCA34 variants (Missense)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 34, 133190
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Spinocerebellar ataxia 34, 133190
- Spinocerebellar ataxia 34 133190
- OMIM
- 605512
- Clinvar variants
- Variants in ELOVL4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratoderma and erythrokeratodermas
- Retinal disorders
- Palmoplantar keratodermas
- Ichthyosis and erythrokeratoderma
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Structural eye disease
- Glaucoma (developmental)
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to ELOVL4.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ELOVL4.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to ELOVL4.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ELOVL4 was added gene: ELOVL4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 133190