Ichthyosis
Gene: ABHD5EnsemblGeneIds (GRCh38): ENSG00000011198
EnsemblGeneIds (GRCh37): ENSG00000011198
OMIM: 604780, Gene2Phenotype
ABHD5 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ichthyosis is a prominent feature of the condition, and >80 cases have been reported with biallelic ABHD5 variants.
Sources: Expert listCreated: 31 Jan 2020, 12:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erithroderma
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chanarin-Dorfman syndrome MIM#275630
- neutral lipid storage disease with ichthyosis
- non-bullous congenital ichthyosiform erithroderma
- OMIM
- 604780
- Clinvar variants
- Variants in ABHD5
- 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: abhd5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abhd5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ABHD5 was added gene: ABHD5 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 30795549 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erithroderma Review for gene: ABHD5 was set to GREEN