Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: PNP

Red List (low evidence)

PNP (purine nucleoside phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000198805
EnsemblGeneIds (GRCh37): ENSG00000198805
OMIM: 164050, Gene2Phenotype
PNP is in 8 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

No evidence for intellectual disability phenotype
Created: 18 Dec 2017, 3:39 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179
OMIM
164050
Clinvar variants
Variants in PNP
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PNP was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PNP was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen