COVID-19 research
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: Imported from Primary immunodeficiency panel version 1.132

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

London North GLH
NHS GMS
Expert Review Red
North West GLH
North West GLH
NHS GMS
Expert Review Red
London North GLH

Phenotypes

Lupus susceptibility
{Systemic lupus erythematosus susceptibility to}

OMIM

600716

Clinvar variants

Variants in PTPN22

Penetrance

None

Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PTPN22 was added gene: PTPN22 was added to Viral susceptibility. Sources: North West GLH,Expert Review Red,NHS GMS,London North GLH Mode of inheritance for gene: PTPN22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN22 were set to Lupus susceptibility; {Systemic lupus erythematosus susceptibility to}

COVID-19 research Gene: PTPN22