Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PTPN2
Comment on list classification: There are two unrelated cases and a Ptpn2 deficient mouse model in support of the association of PTPN2 to this panel. Hence, this gene can be promoted to green rating in the next GMS review.Created: 2 Nov 2023, 2:57 p.m. | Last Modified: 2 Nov 2023, 2:57 p.m.
Panel Version: 4.116
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
PMID: 32721438 reported a girl with IBD with a de novo missense variant in PTPN2Created: 17 Oct 2023, 1:53 p.m. | Last Modified: 17 Oct 2023, 1:53 p.m.
Panel Version: 4.50
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Very early onset inflammatory bowel disease
Publications
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.
Sources: LiteratureCreated: 3 Aug 2020, 11:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lupus; arthritis; common variable immunodeficiency
Publications
Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PTPN2 were changed from Lupus; arthritis; common variable immunodeficiency to Lupus; arthritis; common variable immunodeficiency; Very early onset inflammatory bowel disease
Publications for gene: PTPN2 were set to 32499645; 27658548
Tag Q4_23_promote_green tag was added to gene: PTPN2. Tag Q4_23_NHS_review tag was added to gene: PTPN2.
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