Familial cicatricial alopecia

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100
  • Lamellar ichthyosis
  • Some affected persons exhibit scarring alopecia
OMIM
603741
Clinvar variants
Variants in ALOX12B
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Jul 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.

13 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

22 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ALOX12B was created by rfoulger

22 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ALOX12B was added to Familial cicatricial alopeciapanel. Sources: Other