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Familial hidradenitis suppurativa

Gene: NCSTN

Green List (high evidence)
NCSTN (nicastrin)
EnsemblGeneIds (GRCh38): ENSG00000162736
EnsemblGeneIds (GRCh37): ENSG00000162736
OMIM: 605254, Gene2Phenotype
NCSTN is in 4 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: NCSTN marked as ready, June 20th 2017.
Created: 20 Jun 2017, 8:40 a.m.
Comment on mode of inheritance: Monoallelic MOI supported by OMIM.
Created: 20 Jun 2017, 8:39 a.m.
Comment on list classification: Updated rating from Red to Green: Green expert review plus >3 unrelated cases (in at least Chinese and Japanese populations) of NCSTN mutations causing HS (also called acne inversa).
Created: 20 Jun 2017, 8:39 a.m.
Created: 20 Jun 2017, 8:39 a.m.

Panel version: 0.7

John McGrath (KCL)

Green List (high evidence)

PSENEN, NCSTN and PSEN1 should be green as they form the gamma-secretase complex, and pathogenic mutations have been described therein, notwithstanding that collectively they account for only approximately 7% of all HS.
Created: 20 Jun 2017, 8:21 a.m.
Created: 20 Jun 2017, 8:21 a.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acne inversa, familial, 1, 142690
  • hidradenitis suppurativa
OMIM
605254
Clinvar variants
Variants in NCSTN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Jul 2017, Gel status: 4

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.

20 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

20 Jun 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for NCSTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

20 Jun 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for NCSTN were set to 26663538; 26463457; 26224166; 22834455; 22759192; 20929727; 22622421

20 Jun 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for NCSTN were set to 26663538; 26463457; 26224166; 22834455; 22759192; 20929727

19 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

NCSTN was added to Familial hidradenitis suppurativapanel. Source: Literature

19 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

NCSTN was created by rfoulger

19 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

NCSTN was added to Familial hidradenitis suppurativapanel. Sources: Radboud University Medical Center, Nijmegen