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Primary immunodeficiency

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
  • 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