Hereditary spastic paraplegia - childhood onset

Gene: ELOVL1

No list

ELOVL1 (ELOVL fatty acid elongase 1)
EnsemblGeneIds (GRCh38): ENSG00000066322
EnsemblGeneIds (GRCh37): ENSG00000066322
OMIM: 611813, Gene2Phenotype
ELOVL1 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism.

Same two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model.
Sources: Expert list
Created: 19 Sep 2020, 7:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527
OMIM
611813
Clinvar variants
Variants in ELOVL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ELOVL1 was added gene: ELOVL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELOVL1 were set to 29496980; 32123819; 30487246 Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Review for gene: ELOVL1 was set to GREEN gene: ELOVL1 was marked as current diagnostic