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

PTPRC

protein tyrosine phosphatase, receptor type C
OMIM: 151460, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PTPRC in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
  • Hepatitis C virus, susceptibility to MIM# 609532

Green PTPRC in Severe Combined Immunodeficiency (absent T present B cells)


Level 2: Immunological disorders
Version 1.6

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
    • Hepatitis C virus, susceptibility to MIM# 609532

    Green PTPRC in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971

    Green PTPRC in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
    Tags
    • treatable
    • immunological