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Primary immunodeficiency

Gene: PDCD1

Red List (low evidence)

PDCD1 (programmed cell death 1)
EnsemblGeneIds (GRCh38): ENSG00000188389
EnsemblGeneIds (GRCh37): ENSG00000188389
OMIM: 600244, Gene2Phenotype
PDCD1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Boaz Palterer. Rating Red as only a single patient reported to date with relevant phenotype (PMID: 34183838)
Created: 8 Jul 2021, 10:10 a.m. | Last Modified: 8 Jul 2021, 10:10 a.m.
Panel Version: 2.441

Boaz Palterer (University of Florence)

Ogishi et al. described a patient with a homozygous frameshift mutation in the PDCD1 encoding the PD-1 protein. The patient presented with polyautoimmunity and tubercolosis, similarly to mice models of PD-1 deficiency and to patients treated with anti-PD-1 cancer immunotherapy.
Sources: Literature
Created: 5 Jul 2021, 11:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Autoimmunity; splenomegaly; pneumonitis; tubercolosis



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Autoimmunity
  • splenomegaly
  • pneumonitis
  • tubercolosis
Clinvar variants
Variants in PDCD1
Panels with this gene

History Filter Activity

8 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pdcd1 has been classified as Red List (Low Evidence).

5 Jul 2021, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: PDCD1 was added gene: PDCD1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: PDCD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD1 were set to 34183838 Phenotypes for gene: PDCD1 were set to Autoimmunity; splenomegaly; pneumonitis; tubercolosis Penetrance for gene: PDCD1 were set to unknown