PNP

purine nucleoside phosphorylase
OMIM: 164050, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PNP in Mendeliome Version 1.1902	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 1.66 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 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 0.6063	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 0.109	review	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 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
Green PNP in BabyScreen+ newborn screening Level 2: Screening Version 1.114	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 0.1 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179 Disorders of purine metabolism