Periodic fever syndromes

Gene: PSTPIP1

Green List (high 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

Alice Gardham (Genomics England)

Comment on list classification: PAPA classed as inherited fever syndrome by the Royal Free Periodic Service. Also listed as a differential on GeneReviews
Created: 2 Feb 2017, 10:49 a.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Amber ready for further review.
Created: 16 Jan 2017, 4:57 p.m.
PAPA syndrome (OMIM:604416) and familial Mediterranean fever (FMF, OMIM:249100) are disorders arising from defects within the same pathway (PMID:14595024).
Created: 16 Jan 2017, 4:55 p.m.
Comment on mode of inheritance: Mode of inheritance sourced from OMIM.
Created: 16 Jan 2017, 4:54 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hereditary Periodic Fever Syndromes
  • PAPA syndrome
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416
OMIM
606347
Clinvar variants
Variants in PSTPIP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

2 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for PSTPIP1 were set to 1197187; 20301405

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

1 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

16 Jan 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).

16 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for PSTPIP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene PSTPIP1 were set to Hereditary Periodic Fever Syndromes; PAPA syndrome; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSTPIP1 was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory