Disorders of immune dysregulation

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

1 review

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

Single patient born to consanguineous parents presenting with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA)
Sources: Literature
Created: 12 Jul 2022, 6:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complex Autoimmunity

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Complex Autoimmunity
  • Inborn errors of immunity, MONDO:0003778
OMIM
600244
Clinvar variants
Variants in PDCD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDCD1 were changed from Complex Autoimmunity to Complex Autoimmunity; Inborn errors of immunity, MONDO:0003778

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Jul 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: PDCD1 was added gene: PDCD1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: PDCD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD1 were set to PMID: 34183838 Phenotypes for gene: PDCD1 were set to Complex Autoimmunity Review for gene: PDCD1 was set to RED