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  3. ALOX12B
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Ectodermal dysplasia

Gene: ALOX12B

Red List (low evidence)
ALOX12B (arachidonate 12-lipoxygenase, 12R type)
EnsemblGeneIds (GRCh38): ENSG00000179477
EnsemblGeneIds (GRCh37): ENSG00000179477
OMIM: 603741, Gene2Phenotype
ALOX12B is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Although some people affected with autosomal recessive congenital ichthyosis (ARCI) may exhibit cicatricial (scarring) alopecia, there is no direct evidence for the role of ALOX12B.
Created: 13 Jul 2017, 1:36 p.m.
Created: 13 Jul 2017, 1:36 p.m.

Panel version: Imported from Familial cicatricial alopecia panel version 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 2, 242100
  • Lamellar ichthyosis
OMIM
603741
Clinvar variants
Variants in ALOX12B
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ALOX12B was added gene: ALOX12B was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Some affected persons exhibit scarring alopecia; Ichthyosis, congenital, autosomal recessive 2, 242100; Lamellar ichthyosis