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COVID-19 research

Gene: PRKCD

Green List (high evidence)

PRKCD (protein kinase C delta)
EnsemblGeneIds (GRCh38): ENSG00000163932
EnsemblGeneIds (GRCh37): ENSG00000163932
OMIM: 176977, Gene2Phenotype
PRKCD is in 3 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in 3 unrelated cases, together with supportive in vitro evidence.
Created: 9 May 2018, 1:03 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PRKCD .PanelApp HGNC gene symbol check: PRKCD . IUIS Disease: PRKCD deficiency . IUIS Inheritance: AR .T cells: Nl number, low Treg, high CD4, poor function, .B cells: Low memory B cells, high CD5 B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative Conditions
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: PRKCD, PanelApp HGNC gene symbol check: PRKCD, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Autoimmune lymphoproliferative syndrome (ALPS) / Autoimmune lymphoproliferative syndrome (ALPS); Predominantly antibody disorders / Unclassified antibody deficiency / Unclassified antibody deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PRKCD, GRID_Gene_Symbol: PRKCD, GRID_Transcript_ENS_Community submitted: ENST00000394729, GRID_Transcript_RefSeq: NM_006254.3, GRID_Transcript_ENS_used_on_Production: ENST00000394729
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG
  • Autoimmune lymphoproliferative syndrome, type III 615559
  • Diseases of Immune Dysregulation
  • Unclassified antibody deficiency
  • Immunodeficiency, common variable, 9
  • Autoimmune lymphoproliferative syndrome (ALPS)
OMIM
176977
Clinvar variants
Variants in PRKCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: PRKCD was added gene: PRKCD was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PRKCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKCD were set to 23430113; 23319571; 23666743 Phenotypes for gene: PRKCD were set to Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG; Autoimmune lymphoproliferative syndrome, type III 615559; Diseases of Immune Dysregulation; Unclassified antibody deficiency; Immunodeficiency, common variable, 9; Autoimmune lymphoproliferative syndrome (ALPS)