Palmoplantar keratoderma and erythrokeratodermas
Gene: 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.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ALOXE3 was created by rfoulger
ALOXE3 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other