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  2. Generalised pustular psoriasis
  3. PSTPIP1
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Generalised pustular psoriasis

Gene: PSTPIP1

Red List (low evidence)
PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000140368
EnsemblGeneIds (GRCh37): ENSG00000140368
OMIM: 606347, Gene2Phenotype
PSTPIP1 is in 7 panels

3 reviews

catherine smith (Guys and St Thomas' NHS Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 2 variants reported. Phenotype not relevant to this panel.
Created: 4 Nov 2016, 12:38 p.m.
Created: 4 Nov 2016, 12:38 p.m.

Panel version: 0.23

Francesca Capon (King's College London)

Red List (low evidence)

Created: 15 Dec 2015, 9:28 p.m.

Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
OMIM
606347
Clinvar variants
Variants in PSTPIP1
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416 to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416

24 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 24/11/2016

4 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416

4 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PSTPIP1 was added to Generalised pustular psoriasispanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSTPIP1 was added to Generalised pustular psoriasispanel. Sources: Illumina TruGenome Clinical Sequencing Services