PanelApp
  1. Genes and Genomic Entities
  2. PNP

PNP

purine nucleoside phosphorylase
OMIM: 164050, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PNP in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179

Green PNP in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179
    • Autoimmune hemolytic anaemia
    • neurological impairment
    • SCID
    • CID
    • hypouricaemia
    • failure to thrive
    • chronic diarrhoea
    • recurrent respiratory/ gastrointestinal infections
    • normal-low Ig levels
    • spastic paresis
    • tremor
    • ataxia
    • DD

    Red PNP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179

    Green PNP in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)

    Green PNP in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179

    Green PNP in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179

    Green PNP in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179
    Tags
    • treatable
    • immunological

    Green PNP in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
    • Disorders of purine metabolism