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| Combined Immunodeficiency v0.297 | PNP | Zornitza Stark Marked gene: PNP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.297 | PNP | Zornitza Stark Gene: pnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.297 | PNP | Zornitza Stark Phenotypes for gene: PNP were changed from to 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.296 | PNP | Zornitza Stark Publications for gene: PNP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.295 | PNP | Zornitza Stark Mode of inheritance for gene: PNP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.291 | PNP | Danielle Ariti reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22132981, 9122228, 10859343; 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.0 | PNP |
Zornitza Stark gene: PNP was added gene: PNP was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PNP was set to Unknown |
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