PanelApp
  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 0.93

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979

Green PSTPIP1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 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
    • Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979

    Green PSTPIP1 in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
    • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
    • PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome

    Green PSTPIP1 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.28

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
    • 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 0.58

    		0 reviews 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
    • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
    Tags
    • treatable
    • immunological