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Newborns main panel

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 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PRKDC curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 26, with or without neurologic abnormalities
OMIM
600899
Clinvar variants
Variants in PRKDC
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities for gene: PRKDC

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities for gene: PRKDC

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities for gene: PRKDC

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PRKDC. Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities for gene: PRKDC Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to PRKDC. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities for gene: PRKDC

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PRKDC was added gene: PRKDC was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal