Familial hidradenitis suppurativa

Gene: PSEN1

Green List (high evidence)

PSEN1 (presenilin 1)
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green based on expert Green review and comment from Prof. John McGrath. Agreed amongst curation team (June 22nd 2017) that can promote to green based on Expert review with only 1 variant reported: One heterozygous PSEN1 variant reported in HS-affected individual in Wang et al., 2010 (PMID:20929727). PSEN1 is in phenotypic series with other gamma-secretase components NCSTN and PSENEN. Mouse skin phenotypes are seen on more severe reductions in presenilin expression.
Created: 6 Jul 2017, 2:02 p.m.
Comment when marking as ready: PSEN1 marked as Ready: June 22nd 2017.
Created: 22 Jun 2017, 11:58 a.m.
Comment on mode of inheritance: Monoallelic MOI supported by OMIM.
Created: 20 Jun 2017, 8:41 a.m.

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.

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.

22 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).

22 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 Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for PSEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jun 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for PSEN1 were set to Acne inversa, familial, 3, 613737

19 Jun 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

PSEN1 was added to Familial hidradenitis suppurativapanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PSEN1 was created by rfoulger

19 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PSEN1 was added to Familial hidradenitis suppurativapanel. Sources: Literature