Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: PRKDC

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families described, but only one with neurological phenotype; difficult to know whether this is part of the phenotype esp as animal models lack neurological features. Gene is on immunodeficiency gene panels.
Created: 9 Dec 2019, 12:58 a.m. | Last Modified: 9 Dec 2019, 12:58 a.m.
Panel Version: 0.1011

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966
OMIM
600899
Clinvar variants
Variants in PRKDC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkdc has been classified as Red List (Low Evidence).

9 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKDC were changed from to Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966

9 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRKDC were set to

9 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRKDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkdc has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKDC was added gene: PRKDC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKDC was set to Unknown