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COVID-19 research

Gene: PTPN22

Red List (low evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
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}