Ichthyosis and erythrokeratoderma
Gene: ELOVL4

ELOVL4 (ELOVL fatty acid elongase 4)
EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 14 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least one variant reported in a family with Spinocerebellar ataxia 34 133190, including erythema and hyperkeratosis in early childhood
Created: 15 Aug 2017, 10:49 a.m.

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

Phenotypes
Spinocerebellar ataxia 34 133190

Publications

Created: 15 Aug 2017, 10:49 a.m.

Panel version: Imported from Palmoplantar keratoderma and erythrokeratodermas panel version 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Spinocerebellar ataxia 34 133190

OMIM

605512

Clinvar variants

Variants in ELOVL4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

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 Ichthyosis and erythrokeratoderma. Sources: Expert Review Red 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

Ichthyosis and erythrokeratoderma Gene: ELOVL4