Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: PTPN2

Amber List (moderate evidence)

PTPN2 (protein tyrosine phosphatase, non-receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000175354
EnsemblGeneIds (GRCh37): ENSG00000175354
OMIM: 176887, Gene2Phenotype
PTPN2 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Amber as additional cases required for inclusion of PTPN2 on a diagnostic panel.
Created: 10 Aug 2020, 3:18 p.m. | Last Modified: 10 Aug 2020, 3:18 p.m.
Panel Version: 2.180

Zornitza Stark (Australian Genomics)

I don't know

A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype.
Sources: Literature
Created: 3 Aug 2020, 11:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lupus; arthritis; common variable immunodeficiency

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Lupus
  • arthritis
  • common variable immunodeficiency
OMIM
176887
Clinvar variants
Variants in PTPN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ptpn2 has been classified as Amber List (Moderate Evidence).

3 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PTPN2 was added gene: PTPN2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN2 were set to 32499645; 27658548 Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency Review for gene: PTPN2 was set to AMBER