Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PTPN22

PTPN22 (protein tyrosine phosphatase, non-receptor type 22)
EnsemblGeneIds (GRCh38): ENSG00000134242
EnsemblGeneIds (GRCh37): ENSG00000134242
OMIM: 600716, Gene2Phenotype
PTPN22 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Potential risk allele for SLE. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.
Created: 27 Sep 2019, 2:53 p.m. | Last Modified: 27 Sep 2019, 2:53 p.m.

Panel Version: 1.132

Created: 27 Sep 2019, 2:53 p.m.
Last Modified: 27 Sep 2019, 2:53 p.m.
Panel version: 1.132

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

North West GLH
NHS GMS
Expert Review Red
London North GLH

Phenotypes

{Systemic lupus erythematosus susceptibility to}
Lupus susceptibility

OMIM

600716

Clinvar variants

Variants in PTPN22

Penetrance

None

Panels with this gene

History Filter Activity

27 Sep 2019, Gel status: 1

Added New Source, Added New Source, Added New Source, Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PTPN22. Source Expert Review Red was added to PTPN22. Source NHS GMS was added to PTPN22. Source North West GLH was added to PTPN22. Rating Changed from No List (delete) to Red List (low evidence)

27 Sep 2019, Gel status: 0

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

Louise Daugherty (Genomics England Curator)

gene: PTPN22 was added gene: PTPN22 was added to Primary immunodeficiency. Sources: Mode of inheritance for gene: PTPN22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN22 were set to {Systemic lupus erythematosus susceptibility to}; Lupus susceptibility

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: PTPN22