PRKDC

protein kinase, DNA-activated, catalytic polypeptide
OMIM: 600899, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PRKDC in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • SCID v1.6
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • 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
  • DNA Pkcs deficiency
  • Combined immunodeficiency
  • Immunodeficiency, with or without neurologic abnormalities
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
  • Severe combined immunodeficiency (SCID)
Green PRKDC in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review 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
Red PRKDC in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green PRKDC in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 26, with or without neurologic abnormalities, 615966