Primary immunodeficiencyGene: PTPN2
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
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.
Created: 3 Aug 2020, 11:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lupus; arthritis; common variable immunodeficiency
Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
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