Familial hidradenitis suppurativa
Gene: PSENENComment when marking as ready: PSENEN marked as ready, June 20th 2017.Created: 20 Jun 2017, 9:27 a.m.
Comment on list classification: Updated rating from Red to Green: Green expert review plus >3 unrelated cases of PSENEN mutations causing HS (also called acne inversa).Created: 20 Jun 2017, 9:27 a.m.
Comment on mode of inheritance: Monoallelic MOI supported by OMIM and literature.Created: 20 Jun 2017, 9:25 a.m.
2 novel mutations of PSENEN gene were identified in Zhou et al., 2016 (PMID:27900998 ) in two Chinese familes with Acne inversa (AI), also called hidradenitis suppurativa: c.194T>G (p.L65R) and a splice site mutation c.167-2A>G.Created: 20 Jun 2017, 9:25 a.m.
PMID:21412258 (Pink et al., 2011) report a heterozygous c.66_67insG insertion (p.Phe23ValfsX98) in PSENEN in 2 individuals from an affected pedigree with HS (acne inversa). The mutation was absent in unaffected family members.Created: 20 Jun 2017, 9:25 a.m.
2 unrelated Chinese families with HS (acne inversa) and PSENEN mutations reported in PMID:20929727 (Wang et al., 2010): 66delG (F23LfsX46) and 279delC (F94SfsX51).Created: 20 Jun 2017, 9:24 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).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PSENEN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for PSENEN were set to 27900998; 21412258; 20929727
PSENEN was added to Familial hidradenitis suppurativapanel. Source: Literature
PSENEN was created by rfoulger
PSENEN was added to Familial hidradenitis suppurativapanel. Sources: Radboud University Medical Center, Nijmegen