Ichthyosis and erythrokeratoderma
Gene: ABHD5Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Chanarin-Dorfman, caused by biallelic variants in the ABHD5 gene, is a neutral lipid storage disorder. The phenotype is variable with multiple organ involvement; however, the most prominent feature is non-bullous congenital ichthyosiform erythroderma. As ichthyosis is a cardinal feature of this condition, a Green rating on this panel is warranted.Created: 26 Mar 2024, 11:50 a.m. | Last Modified: 26 Mar 2024, 11:52 a.m.
Panel Version: 3.25
Green gene on multiple panels including PPK. Request from Dr G Petrof, GOSH, to add this gene to ichthyosis, as this is part of presenting phenotype in Chanarin-Dorfman syndrome.
Sources: Expert listCreated: 18 Dec 2023, 8:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chanarin-Dorfman syndrome
Publications
Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Tag Q1_24_promote_green tag was added to gene: ABHD5. Tag Q1_24_NHS_review tag was added to gene: ABHD5.
Publications for gene: ABHD5 were set to PubMed: 11590543
Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome to Chanarin-Dorfman syndrome, OMIM:275630
gene: ABHD5 was added gene: ABHD5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to PubMed: 11590543 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome Penetrance for gene: ABHD5 were set to Complete Review for gene: ABHD5 was set to GREEN