Ichthyosis and erythrokeratodermaGene: ALOXE3
Comment on list classification: Updated rating from Red to Green following discussion with Helen Brittain: Ichthyosis can present with PPK (although one case in OMIM notes the lack of a PPK phenotype), and sufficient cases of ALOXE3 variants supporting causation of ichthyosis.
Created: 3 Apr 2017, 9:40 a.m.
Sufficient (>3) unrelated cases supporting ALOXE3 variants causing 'Ichthyosis, congenital, autosomal recessive 3 (MIM:606545). In a German family with a P630L variant, none of the patients had pronounced palmoplantar keratoderma, but did show typical hyperlinearity of the palms.
Created: 23 Mar 2017, 10:41 a.m.
ALOXE3 is on the 'Palmoplantar keratoderma and erythrokeratodermas' panel because 'mild (rare) palmoplantar keratoderma' is listed as a phenotype the clinical synopsis for 'Ichthyosis, congenital, autosomal recessive 3 (OMIM:606545)'.
Created: 9 Jan 2017, 10:07 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. Numerous variants reported.
Created: 8 Jun 2016, 8:30 a.m.
Most cases can be explained by 6 genes, indeed nearly 80% have mutations in these genes which clearly have type 3 supportive evidence. Based on studies of >500 patients the breakdown is usually as follows: TGM1 (32%), NIPAL4 (16%), ALOX12B (12%), CYP4F22 (8%), ABCA12 (5%), ALOXE3 (5%) . which leaves 22% split among some of the others or unknown.
Created: 18 Nov 2015, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
ARCI 3; Ichthyosis, congenital, autosomal recessive 3
gene: ALOXE3 was added gene: ALOXE3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE)