Ichthyosis and erythrokeratodermaGene: CERS3
Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 1/4 sources. One reviewer recommends Green, commenting that this is a real but rare gene for Autosomal recessive congenital ichthyosis. Two variants reported to date.
Created: 8 Jun 2016, 10:02 a.m.
CERS3 joined the ARCI list in 2013, with a couple of families described - so a real but rare gene for ARCI
Created: 18 Nov 2015, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
ARCI 9; Ichthyosis, congenital, autosomal recessive 9
gene: CERS3 was added gene: CERS3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CERS3 were set to 23549421; 23754960 Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023