Ichthyosis and erythrokeratodermaGene: LIPN
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 1/4 sources. Reviewer recommends Red. One LOF variant reported in large consanguineous family with a late-onset form of recessive ichthyosis (PMID 21439540)
Created: 8 Jun 2016, 10:24 a.m.
LIPN is an oddity - really just described in an Israeli family but the onset of the ichthyosis is late not congenital - so for me (and many others) this is an anomaly and perhaps is might disappear in the next classification
Created: 18 Nov 2015, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
AR(N)CI 8; Ichthyosis, congenital, autosomal recessive 8
gene: LIPN was added gene: LIPN was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPN were set to 21439540 Phenotypes for gene: LIPN were set to Ichthyosis, congenital, autosomal recessive 8, 613943