PanelApp (stage)
  1. Genes and Genomic Entities
  2. PSTPIP1

PSTPIP1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PSTPIP1 in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PSTPIP1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416

Green PSTPIP1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
  • PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome

Green PSTPIP1 in Systemic Autoinflammatory Disease_Periodic Fever


Level 2: Immunological disorders
Version 1.47

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
    • PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome

    Red PSTPIP1 in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.34

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Holoprosencephaly
    • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416)

    Green PSTPIP1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
    Tags
    • treatable
    • immunological