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COVID-19 research

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

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PAPA syndrome; Hyperzincaemia hypercalprotectinaemia

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases.
Created: 9 May 2018, 1:56 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PSTPIP1 (also called C2BP1) .PanelApp HGNC gene symbol check: PSTPIP1 . IUIS Disease: Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome, hyperzincemia and hypercalprotectinemia . IUIS Inheritance: AD .T cells: Normal, .B cells: N/A, .IUIS Other affected cells: Hematopoietic tissues, upregulated in activated T-cells. IUIS Associated features: Destructive arthritis, inflammatory skin rash, myositis. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related Conditions
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 13 Jun 2018, 11:36 a.m.
Comment on publications: added further publication suggested from expert review PMID:26025129
Created: 13 Jun 2018, 11:36 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: PSTPIP1, PanelApp HGNC gene symbol check: PSTPIP1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Pyogenic sterile arthritis pyoderma gangrenosum and acne / Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PSTPIP1, GRID_Gene_Symbol: PSTPIP1, GRID_Transcript_ENS_Community submitted: ENST00000558012, GRID_Transcript_RefSeq: NM_003978.3, GRID_Transcript_ENS_used_on_Production: ENST00000558012
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416
  • Destructive arthritis, inflammatory skin rash, myositis
  • Hyperzincaemia hypercalprotectinaemia
  • Autoinflammatory Disorders
  • Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1)
  • PAPA syndrome
OMIM
606347
Clinvar variants
Variants in PSTPIP1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: PSTPIP1 was added gene: PSTPIP1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSTPIP1 were set to 28628471; 28960754; 29575118; 26025129; 28251506 Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416; Destructive arthritis, inflammatory skin rash, myositis; Hyperzincaemia hypercalprotectinaemia; Autoinflammatory Disorders; Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1); PAPA syndrome Mode of pathogenicity for gene: PSTPIP1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments