Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: PNP

Green List (high evidence)

PNP (purine nucleoside phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000198805
EnsemblGeneIds (GRCh37): ENSG00000198805
OMIM: 164050, Gene2Phenotype
PNP is in 7 panels

7 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 1:40 p.m. | Last Modified: 14 Oct 2020, 1:40 p.m.
Panel Version: 2.293
The following PubMed IDs were added to gene PNP (OMIM gene MIM#164050): 3029074;1384322. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 features
Created: 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 immunodeficiency
Created: 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: ENST00000361505
Created: 17 Apr 2018, 12:12 p.m.

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to 4 reviewers agreeing.
Created: 20 May 2016, 2:18 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency
  • T-B+ SCID
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Combined immunodeficiency
  • Autoimmune haemolytic anemia, neurological impairment
  • Combined immunodeficiencies with associated or syndromic features
OMIM
164050
Clinvar variants
Variants in PNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pnp has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to PNP. Publications for gene PNP were updated from to 1384322; 3029074 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PNP.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to PNP.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PNP.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, T-B+ SCID, Atypical Severe Combined Immunodeficiency (Atypical SCID), Combined immunodeficiency, Autoimmune haemolytic anemia, neurological impairment, Combined immunodeficiencies with associated or syndromic features

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to PNP. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to PNP. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pnp has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to PNP. Panel: Primary immunodeficiency disorders Phenotypes for gene PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, T-B+ SCID, Atypical Severe Combined Immunodeficiency (Atypical SCID), Combined immunodeficiency

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, T-B+ SCID

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to PNP. Panel: Primary immunodeficiency disorders Phenotypes for gene PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, T-B+ SCID

6 Apr 2018, Gel status: 4

Clear Sources

Louise Daugherty (Genomics England Curator)

PNP Source: GOSH PID 20171179 was removed from gene: PNP

6 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to PNP. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID 20171179 was added to PNP. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PNP was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, SCID v1.6

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

PNP was created by Louise Daugherty