ALOX12B

arachidonate 12-lipoxygenase, 12R type
OMIM: 603741, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red ALOX12B in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100
  • Lamellar ichthyosis
  • Some affected persons exhibit scarring alopecia

Green ALOX12B in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.23

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
  • Nonbullous congenital ichthyosiform erythroderma (NBCIE)

Green ALOX12B in Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders
Version 1.13

review 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 2, 242100

Green ALOX12B in Ichthyosis and erythrokeratoderma


Version 1.69
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
  • Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)

Red ALOX12B in Ectodermal dysplasia


Version 1.30
Latest signed off version: v1.10 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 2, 242100
  • Lamellar ichthyosis

Green ALOX12B in Palmoplantar keratodermas


Version 1.10
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis

Amber ALOX12B in Fetal anomalies


Version 1.826
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100
Tags
  • for-review

Green ALOX12B in Severe Paediatric Disorders


Version 1.115

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100