ALOX12B

arachidonate 12-lipoxygenase, 12R type
OMIM: 603741, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ALOX12B in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100

Green ALOX12B in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100

Green ALOX12B in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100

Green ALOX12B in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100 (3)

Green ALOX12B in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive

Red ALOX12B in Fetal anomalies


Version 1.313

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM#242100

Green ALOX12B in Prepair 1000+


Level 2: Screening
Version 1.1566

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100

Red ALOX12B in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100