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  2. Familial hidradenitis suppurativa
  3. IL12RB1
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Familial hidradenitis suppurativa

Gene: IL12RB1

Red List (low evidence)
IL12RB1 (interleukin 12 receptor subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000096996
EnsemblGeneIds (GRCh37): ENSG00000096996
OMIM: 601604, Gene2Phenotype
IL12RB1 is in 3 panels

2 reviews

John McGrath (KCL)

Red List (low evidence)

Created: 20 Jun 2017, 8:21 a.m.

Panel version: 0.4

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as red based on expert review, and insufficient evidence for disease causation.
Created: 6 Jul 2017, 2:10 p.m.
PMID:23557799 perform a SNP analysis of 139 HS patients: although SNPs of IL12RB1 do not seem to convey genetic predisposition, they are associated directly with the phenotype of the disease.
Created: 19 Jun 2017, 10:21 a.m.
Created: 19 Jun 2017, 10:21 a.m.

Panel version: 0.2

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • modification of hidradenitis suppurativa phenotype
OMIM
601604
Clinvar variants
Variants in IL12RB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Jul 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

6th July 2017: Revised panel and promoted to Version 1.0 based on expert review. Although PSENEN, NCSTN and PSEN1 (all green genes on this panel) collectively only account for approximately 7% of all hidradenitis suppurativa (HS), there is insufficient evidence to promote any further genes to green at this time.

6 Jul 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for IL12RB1 was changed to Unknown

6 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).

19 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

IL12RB1 was created by rfoulger

19 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

IL12RB1 was added to Familial hidradenitis suppurativapanel. Sources: Literature