Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • Immunodeficiency 26, with or without neurologic abnormalities
  • Immunodeficiency, with or without neurologic abnormalities
  • DNA Pkcs deficiency
  • Combined immunodeficiency
  • Severe combined immunodeficiency (SCID)
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
600899
Clinvar variants
Variants in PRKDC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PRKDC.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to PRKDC.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PRKDC.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, Immunodeficiency, with or without neurologic abnormalities, DNA Pkcs deficiency, Combined immunodeficiency, Severe combined immunodeficiency (SCID), Nl NK, radiation sensitive, microcephaly, Immunodeficiencies affecting cellular and humoral immunity

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to PRKDC. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to PRKDC. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to PRKDC. Panel: Primary immunodeficiency disorders Phenotypes for gene PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, Immunodeficiency, with or without neurologic abnormalities, DNA Pkcs deficiency, Combined immunodeficiency, Severe combined immunodeficiency (SCID)

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, Immunodeficiency, with or without neurologic abnormalities, DNA Pkcs deficiency

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to PRKDC. Panel: Primary immunodeficiency disorders Phenotypes for gene PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, Immunodeficiency, with or without neurologic abnormalities, DNA Pkcs deficiency

6 Apr 2018, Gel status: 4

Clear Sources

Louise Daugherty (Genomics England Curator)

PRKDC Source: GOSH PID 20171181 was removed from gene: PRKDC

6 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to PRKDC. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID 20171181 was added to PRKDC. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PRKDC was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, SCID v1.6

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

PRKDC was created by Louise Daugherty