Autosomal recessive congenital ichthyosis
Gene: ALOXE3

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

2 reviews

Sarah Leigh (Genomics England Curator)

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.

Created: 8 Jun 2016, 8:30 a.m.

Panel version: 0.5

John McGrath (King's College London)

Green List (high evidence)

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

Phenotypes
ARCI 3; Ichthyosis, congenital, autosomal recessive 3

Created: 18 Nov 2015, 2:50 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Ichthyosis, congenital, autosomal recessive 3, 606545

OMIM

607206

Clinvar variants

Variants in ALOXE3

Penetrance

Complete

Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545

26 Oct 2015, Gel status: 3