Palmoplantar keratoderma and erythrokeratodermas
Gene: ALOX12B

ALOX12B (arachidonate 12-lipoxygenase, 12R type)
EnsemblGeneIds (GRCh38): ENSG00000179477
EnsemblGeneIds (GRCh37): ENSG00000179477
OMIM: 603741, Gene2Phenotype
ALOX12B is in 7 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: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.

Created: 13 Mar 2017, 10:53 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Nonbullous congenital ichthyosiform erythroderma (NBCIE)

OMIM

603741

Clinvar variants

Variants in ALOX12B

Penetrance

Complete

Publications

Panels with this gene