COVID-19 research
Gene: PNP
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PNP .PanelApp HGNC gene symbol check: PNP . IUIS Disease: Purine nucleoside phosphorylase (PNP) deficiency . IUIS Inheritance: AR .T cells: Nl number, poor diversity, poor function, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Autoimmune haemolytic anemia, neurological impairment. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Other Combined immunodeficiencies with associated or syndromic featuresCreated: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: PNP, PanelApp HGNC gene symbol check: PNP, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Atypical Severe Combined Immunodeficiency (Atypical SCID) / Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiencyCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PNP, GRID_Gene_Symbol: PNP, GRID_Transcript_ENS_Community submitted: ENST00000361505, GRID_Transcript_RefSeq: NM_000270.3, GRID_Transcript_ENS_used_on_Production: ENST00000361505Created: 17 Apr 2018, 12:12 p.m.
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Promoted from red to green due to 4 reviewers agreeing.Created: 20 May 2016, 2:18 p.m.
gene: PNP was added gene: PNP was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNP were set to Combined immunodeficiency; Autoimmune haemolytic anemia, neurological impairment; Immunodeficiency due to purine nucleoside phosphorylase deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); T-B+ SCID; Combined immunodeficiencies with associated or syndromic features