Palmoplantar Keratoderma and Erythrokeratoderma
Gene: ELOVL4EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 10 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).
Sources: LiteratureCreated: 19 Aug 2020, 12:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 34, MIM#133190
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spinocerebellar ataxia 34, MIM#133190
- OMIM
- 605512
- Clinvar variants
- Variants in ELOVL4
- 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: 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
Naomi Baker (Victorian Clinical Genetics Services)gene: ELOVL4 was added gene: ELOVL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELOVL4 were set to PMID:24566826; 26258735; 30065956. Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34, MIM#133190 Review for gene: ELOVL4 was set to GREEN