Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PTPN1

PTPN1 (protein tyrosine phosphatase, non-receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000196396
EnsemblGeneIds (GRCh37): ENSG00000196396
OMIM: 176885, Gene2Phenotype
PTPN1 is in 6 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

12 patients from 11 unrelated kindreds with heterozygous PTPN1 loss-of-function variants causing autoinflammatory encephalopathy with type I interferonopathy (elevated CSF neopterin, ISG upregulation). AD with incomplete penetrance (9/12 inherited from asymptomatic carrier parent); PTPN1 is highly LoF-constrained (LOEUF 0.325).
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

39986310
41959779 (preprint, medRxiv)

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

OMIM

176885

Clinvar variants

Variants in PTPN1

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PTPN1 was added gene: PTPN1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: PTPN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: PTPN1