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STRs in panel
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COVID-19 research

Gene: PRKDC

Green List (high evidence)

PRKDC (protein kinase, DNA-activated, catalytic polypeptide)
EnsemblGeneIds (GRCh38): ENSG00000253729
EnsemblGeneIds (GRCh37): ENSG00000253729
OMIM: 600899, Gene2Phenotype
PRKDC is in 4 panels

5 reviews

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

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): PRKDC .PanelApp HGNC gene symbol check: PRKDC . IUIS Disease: DNA PKcs deficiency . IUIS Inheritance: AR .T cells: Varies from severely decreased (SCID) to normal, impaired lymphocyte proliferation, .B cells: Very low, .IUIS Other affected cells: N/A. IUIS Associated features: Nl NK, radiation sensitive, microcephaly. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: T-B- SCID
Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: DNA-PKcs, PanelApp HGNC gene symbol check: PRKDC, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Combined immunodeficiencies / Severe combined immunodeficiency (SCID) / Severe combined immunodeficiency (SCID)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PRKDC, GRID_Gene_Symbol: PRKDC, GRID_Transcript_ENS_Community submitted: ENST00000314191, GRID_Transcript_RefSeq: NM_006904.6, GRID_Transcript_ENS_used_on_Production: ENST00000314191
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: The gene was added by one reviewer, and rated green by a second reviewer. Two cases reported in OMIM, and from a literature search there seems to be functional evidence for a role in V(D)J recombination.
Created: 20 May 2016, 2:36 p.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Immunodeficiency 26, with or without neurologic abnormalities
  • DNA Pkcs deficiency
  • Combined immunodeficiency
  • Immunodeficiency, with or without neurologic abnormalities
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
  • Severe combined immunodeficiency (SCID)
OMIM
600899
Clinvar variants
Variants in PRKDC
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: PRKDC was added gene: PRKDC was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKDC were set to 23722905; 19075392; 25842288 Phenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities; DNA Pkcs deficiency; Combined immunodeficiency; Immunodeficiency, with or without neurologic abnormalities; Nl NK, radiation sensitive, microcephaly; Immunodeficiencies affecting cellular and humoral immunity; Severe combined immunodeficiency (SCID)