PRKDC

protein kinase, DNA-activated, catalytic polypeptide
OMIM: 600899, ClinGen, DECIPHER

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green PRKDC in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966 Absent T and B cells normal NK cells SCID recurrent respiratory infections microcephaly seizures developmental delay
Green PRKDC in Severe Combined Immunodeficiency (absent T absent B cells) Level 2: Immunological disorders Version 1.8 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966 Absent T and B cells normal NK cells SCID recurrent respiratory infections microcephaly seizures developmental delay
Red PRKDC in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966
Green PRKDC in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966 Tags treatable immunological