Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PRKDC
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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- SCIDCreated: 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: ENST00000314191Created: 17 Apr 2018, 12:12 p.m.
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.
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Source NHS GMS was added to PRKDC.
Source North West GLH was added to PRKDC.
Source London North GLH was added to PRKDC.
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.
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
IUIS Classification February 2018 was added to PRKDC. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to PRKDC. Panel: Primary immunodeficiency disorders
Gene: prkdc has been classified as Green List (High Evidence).
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)
Phenotypes for gene PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, Immunodeficiency, with or without neurologic abnormalities, DNA Pkcs deficiency
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
PRKDC Source: GOSH PID 20171181 was removed from gene: PRKDC
GOSH PID v.8.0 was added to PRKDC. Panel: Primary immunodeficiency disorders
GOSH PID 20171181 was added to PRKDC. Panel: Primary immunodeficiency disorders
PRKDC was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, SCID v1.6
PRKDC was created by Louise Daugherty