PRF1

perforin 1
OMIM: 170280, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green PRF1 in Vasculitis


Level 2: Immunological disorders
Version 0.86

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

Green PRF1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.324

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Aplastic anemia
  • Hemophagocytic lymphohistiocytosis, familial, 2 AR
  • Lymphoma, non-Hodgkin

Green PRF1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aplastic anemia 609135
  • Hemophagocytic lymphohistiocytosis, familial, 2 603553
  • Lymphoma, non-Hodgkin 605027

Green PRF1 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 1.10

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Red PRF1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553

    Red PRF1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 2 603553

    Green PRF1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)

    Green PRF1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 2

    Green PRF1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    • Other
    Phenotypes
    • Aplastic anaemia - #609135
    • Haemophagocytic lymphohistiocytosis, familial, 2 - #603553

    Green PRF1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553

    Green PRF1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
    Tags
    • treatable
    • immunological

    Green PRF1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)