PSTPIP1

proline-serine-threonine phosphatase interacting protein 1
OMIM: 606347, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber PSTPIP1 in Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Tags
  • promoter

Green PSTPIP1 in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.31

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416

Red PSTPIP1 in Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders
Version 1.12

review 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

Green PSTPIP1 in COVID-19 research


Level 2: Viral research
Version 1.130

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
  • Destructive arthritis, inflammatory skin rash, myositis
  • Hyperzincaemia hypercalprotectinaemia
  • Autoinflammatory Disorders

Red PSTPIP1 in Pituitary hormone deficiency


Version 2.13
Latest signed off version: v2.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416

Green PSTPIP1 in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
  • Destructive arthritis, inflammatory skin rash, myositis
  • Hyperzincaemia hypercalprotectinaemia
  • Autoinflammatory Disorders

Green PSTPIP1 in Severe Paediatric Disorders


Version 1.127

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416

Green PSTPIP1 in Autoinflammatory disorders

Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 0.37

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416