Ichthyosis
Gene: ELOVL1EnsemblGeneIds (GRCh38): ENSG00000066322
EnsemblGeneIds (GRCh37): ENSG00000066322
OMIM: 611813, Gene2Phenotype
ELOVL1 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ichthyosis is a prominent feature of the condition. 2 unrelated cases with an identical heterozygous de novo ELOVL1 mutation (c.494C>T, NM_001256399; p.S165F) not deriving from a founder allele. Enzyme activity abrogated in patient cells. Elovl1 -/- mice died shortly after birth due to epidermal barrier defects. Reduced very long chain fatty acids were reduced in tissues.Created: 31 Jan 2020, 2:10 a.m. | Last Modified: 31 Jan 2020, 2:10 a.m.
Panel Version: 0.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
-
- Expert Review Green
- Victorian Clinical Genetics Services
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: elovl1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ELOVL1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ELOVL1 was added gene: ELOVL1 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ELOVL1 was set to Unknown