Ichthyosis and erythrokeratoderma

Gene: ELOVL1

Green List (high evidence)

ELOVL1 (ELOVL fatty acid elongase 1)
EnsemblGeneIds (GRCh38): ENSG00000066322
EnsemblGeneIds (GRCh37): ENSG00000066322
OMIM: 611813, Gene2Phenotype
ELOVL1 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 2:33 p.m. | Last Modified: 31 Jan 2023, 2:33 p.m.
Panel Version: 2.12
Comment on list classification: New gene added by Zornitza Stark. Although only a single variant has been reported to date this was shown to arise de novo in unrelated individuals and the possibility of a founder effect was ruled out. Pathogenicity is supported by functional data including in vitro studies of the variant and complimentary animal models. Overall this is sufficient evidence to rate this gene as Green at the next GMS panel update.
Created: 23 Nov 2021, 11:19 a.m. | Last Modified: 23 Nov 2021, 11:19 a.m.
Panel Version: 2.106
Single heterozygous ELOVL1 variant (c.494C>T, p.S165F) identified in two boys of Polish ancestry; however, haplotype analysis revealed that the variant was not derived from a founder allele. Clinical presentation in both individuals was homogenous and included ichthyosis, hypomyelination, spastic paraplegia and optic atrophy. Elovl1 mutant mice display similar phenotypes including deficits in motor coordination, hypomyelination and skin alterations.
Created: 23 Nov 2021, 11:15 a.m. | Last Modified: 23 Nov 2021, 11:15 a.m.
Panel Version: 2.105

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

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

Publications

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
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Tags
missense
OMIM
611813
Clinvar variants
Variants in ELOVL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: ELOVL1.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ELOVL1. Source NHS GMS was added to ELOVL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Nov 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: ELOVL1 was added gene: ELOVL1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list,Expert Review Amber missense, Q4_21_rating tags were added to gene: ELOVL1. Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELOVL1 were set to 23689133; 29496980; 30487246; 32123819 Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527