1. Panels
  2. Ataxia - paediatric
  3. ELOVL1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Ataxia - paediatric

Gene: ELOVL1

Red List (low evidence)
ELOVL1 (ELOVL fatty acid elongase 1)
EnsemblGeneIds (GRCh38): ENSG00000066322
EnsemblGeneIds (GRCh37): ENSG00000066322
OMIM: 611813, Gene2Phenotype
ELOVL1 is in 6 panels

3 reviews

Hazel Phillimore (Victorian Clinical Genetics Services)

I don't know

De novo missense (S165F) in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.
Created: 20 Apr 2020, 3:28 a.m. | Last Modified: 20 Apr 2020, 3:30 a.m.
Panel Version: 0.2365

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ichthyosis; acanthosis nigricans; hypomyelination; spastic paraplegia; high frequency deafness; optic atrophy; nystagmus

Publications

Created: 20 Apr 2020, 3:28 a.m.
Last Modified: 20 Apr 2020, 3:30 a.m.
Panel version: Imported from Mendeliome panel version 0.2365

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a prominent feature of this condition.
Sources: Expert list
Created: 16 Jan 2020, 5:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527

Created: 16 Jan 2020, 5:38 a.m.

Panel version: 0.26

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Ataxia is not a prominent feature of this condition.
Sources: Expert list
Created: 27 Dec 2019, 3:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM#618527

Created: 27 Dec 2019, 3:20 a.m.

Panel version: Imported from Ataxia_Paediatric panel version Imported from Ataxia_VCGS panel version 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527
OMIM
611813
Clinvar variants
Variants in ELOVL1
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elovl1 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ELOVL1 was added gene: ELOVL1 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 Review for gene: ELOVL1 was set to RED