Familial hidradenitis suppurativa
Gene: NCSTNComment 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.
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.
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NCSTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Publications for NCSTN were set to 26663538; 26463457; 26224166; 22834455; 22759192; 20929727; 22622421
Publications for NCSTN were set to 26663538; 26463457; 26224166; 22834455; 22759192; 20929727
NCSTN was added to Familial hidradenitis suppurativapanel. Source: Literature
NCSTN was created by rfoulger
NCSTN was added to Familial hidradenitis suppurativapanel. Sources: Radboud University Medical Center, Nijmegen