Ichthyosis and erythrokeratodermaGene: SLC27A4
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 1/4 sources. Reviewer suggested this gene and recommended Green. It is associated with Ichthyosis prematurity syndrome, 608649, which overlaps with autosomal recessive congenital ichthyosis. Numerous variants reported.
Created: 8 Jun 2016, 10:32 a.m.
FATP4 (SLC27A4) causes ichthyosis prematurity syndrome. There is a protein interaction with ichthyin (NIPAL4) and the phenotype in ichthyosis prematurity syndrome does overlap with ARCI - so there may be some cases that are more ARCI - maybe a level 2 evidence here. Kids are born prematurely and have respiratory difficulty often requiring ventilation - but the skin is clearly ARCI.
Created: 18 Nov 2015, 2:50 p.m.
Ichthyosis prematurity syndrome
gene: SLC27A4 was added gene: SLC27A4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome, 608649