Familial hidradenitis suppurativa

Gene: PSTPIP1

Amber List (moderate evidence)

PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000140368
EnsemblGeneIds (GRCh37): ENSG00000140368
OMIM: 606347, Gene2Phenotype
PSTPIP1 is in 8 panels

2 reviews

John McGrath (KCL)

I don't know

Amber as definite HS-like features have been reported although the clinical total features are different (auto-inflammatory syndrome for PSTPIP1).
Created: 20 Jun 2017, 8:21 a.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Amber following review from expert and disease-nominator, Professor John McGrath. Hidradenitis suppurativa phenotypes included in PASH and PAPASH syndromes, which are caused by PSTPIP1 mutations.
Created: 20 Jun 2017, 9:31 a.m.
Variants in the PSTPIP1 gene are associated with PAPA syndrome (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM:604416), PASH syndrome (pyoderma gangrenosum, acne, and Hidradenitis suppurativa), and PAPASH disorder (Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa); PASH and PAPASH at least include the HS phenotype.
Created: 19 Jun 2017, 10:31 a.m.
PASH syndrome (pyoderma gangrenosum, acne, and Hidradenitis suppurativa) is associated with an increased number of CCTG promoter repeats in the PSTPIP1 5'UTR region (PMID:25501066). Added the 'promoter' tag to highlight this information.
Created: 19 Jun 2017, 10:28 a.m.
PMID:23571383 describe the PAPASH disorder (Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa) in a 16-year-old female patient of Moldavian descent: genetic studies revealed a c.831G>T mutation in PSTPIP1 leading to the E277D missense mutation.
Created: 19 Jun 2017, 10:26 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • pyoderma gangrenosum, acne, and Hidradenitis suppurativa (PASH syndrome)
  • pyoderma gangrenosum, acne, pyogenic arthritis, and Hidradenitis suppurativa (PAPASH syndrome)
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (PAPA syndrome)
Tags
promoter
OMIM
606347
Clinvar variants
Variants in PSTPIP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Jul 2017, Gel status: 2

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: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PSTPIP1 was created by rfoulger

19 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PSTPIP1 was added to Familial hidradenitis suppurativapanel. Sources: Literature