Palmoplantar keratoderma and erythrokeratodermas
Gene: ALOX12B
Comment on list classification: Updated rating from Red to Green following discussion with Helen Brittain:PPK is a relatively common aspect of the ichthyosis phenotype, and sufficient unrelated cases (>3) to support causation.Created: 3 Apr 2017, 9:35 a.m.
>10 variants supporting causation for AR Ichthyosis (MIM:242100). PPK is mentioned as a specific phenotype in at least 5 unrelated cases of patients with AR Ichthyosis (MIM:242100) (PMID:11773004, 16116617, 17139268, 19890349). In at least one patient the PPK is absent (PMID:16116617, Eckl et al., 2005).
Created: 13 Mar 2017, 10:53 a.m.
ALOX12B is on the 'Palmoplantar keratoderma and erythrokeratodermas' panel because 'palmoplantar keratoderma' is listed as a phenoptype in many patients with ichthyosis (OMIM:242100).Created: 9 Jan 2017, 10:03 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).
Publications for ALOX12B were set to 11773004; 17139268; 19890349; 16116617
Phenotypes for ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma); Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Phenotypes for gene ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100; Nonbullous congenital ichthyosiform erythroderma (NBCIE); palmoplantar keratoderma
ALOX12B was created by rfoulger
ALOX12B was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other