Palmoplantar keratoderma and erythrokeratodermas
Gene: ALOXE3

ALOXE3 (arachidonate lipoxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000179148
EnsemblGeneIds (GRCh37): ENSG00000179148
OMIM: 607206, Gene2Phenotype
ALOXE3 is in 8 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Created: 10 Apr 2017, 9:10 a.m.

Panel version: 0.187

Rebecca Foulger (Genomics England curator)

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.

Created: 23 Mar 2017, 10:41 a.m.

Panel version: 0.168

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

Ichthyosis, congenital, autosomal recessive 3, 606545
Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Most patients present with collodion membrane at birth and have palmoplantar keratoderma

OMIM

607206

Clinvar variants

Variants in ALOXE3

Penetrance

Complete

Panels with this gene