Ichthyosis
Gene: ELOVL4EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 10 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 22100072;
- 1x proband born of consanguineous parents with congenital ichthyosis, profound developmental delay, recalcitrant seizures, severe hypertonia in the upper and lower extremities
> homozygous for a nonsense variant
- 1x proband born of consanguineous parents with congenital ichthyosis, myoclonic seizures, profound motor delay
> homozygous for a frameshift
PMID: 24571530;
- 1x consanguineous family with 3 affecteds with congenital ichthyosis
- Intellectual disability and spastic quadriplegia were observed only in 1 of the patients
> homozygous for a nonsense
Sources: LiteratureCreated: 12 Aug 2020, 2:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)
- OMIM
- 605512
- Clinvar variants
- Variants in ELOVL4
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: elovl4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: elovl4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: ELOVL4 was added gene: ELOVL4 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELOVL4 were set to 22100072; 24571530 Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457) Penetrance for gene: ELOVL4 were set to unknown Review for gene: ELOVL4 was set to GREEN