Ichthyosis and erythrokeratodermaGene: PNPLA1
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. One reviewer recommends Green. More than three variants in different populations
Created: 8 Jun 2016, 8:50 a.m.
PNPLA1 only joined the list in 2012, initially found in dogs, but subsequently in 3 or 4 families - clinically ARCI so this seems to be a real but rare gene for ARCI
Created: 18 Nov 2015, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
ARCI 10; Ichthyosis, congenital, autosomal recessive 10
gene: PNPLA1 was added gene: PNPLA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA1 were set to 24344921; 6691440; 26778108 Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024