Disorders of immune dysregulation

Gene: PRKCD

Green List (high evidence)

PRKCD (protein kinase C delta)
EnsemblGeneIds (GRCh38): ENSG00000163932
EnsemblGeneIds (GRCh37): ENSG00000163932
OMIM: 176977, Gene2Phenotype
PRKCD is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation. More than 5 unrelated families reported, mouse model.
Created: 9 Aug 2021, 1:36 a.m. | Last Modified: 9 Aug 2021, 1:36 a.m.
Panel Version: 0.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune lymphoproliferative syndrome, type III, MIM# 615559; CVID 9

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type III, MIM# 615559
  • CVID 9
OMIM
176977
Clinvar variants
Variants in PRKCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkcd has been classified as Green List (High Evidence).

9 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKCD were changed from to Autoimmune lymphoproliferative syndrome, type III, MIM# 615559; CVID 9

9 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRKCD were set to

9 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRKCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKCD was added gene: PRKCD was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PRKCD was set to Unknown