This Panel is marked as Retired
SCID
Gene: PRKDC
PRKDC (protein kinase, DNA-activated, catalytic polypeptide)
EnsemblGeneIds (GRCh38): ENSG00000253729
EnsemblGeneIds (GRCh37): ENSG00000253729
OMIM: 600899, Gene2Phenotype
PRKDC is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000253729
EnsemblGeneIds (GRCh37): ENSG00000253729
OMIM: 600899, Gene2Phenotype
PRKDC is in 2 panels
3 reviews
Sophie Hambleton (Newcastle University)
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Immunodeficiency, with or without neurologic abnormalities
- OMIM
- 600899
- Clinvar variants
- Variants in PRKDC
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
20 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 May 2016, Gel status: 0
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PRKDC were set to 19075392; 23722905; 25842288
19 Oct 2015, Gel status: 0
Added New Source
Sophie Hambleton (Newcastle University)PRKDC was added to SCIDpanel. Sources: Literature,Expert list,Expert Review