Epileptic encephalopathy
Gene: PNKP
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Biallelic mode of inheritance and loss-of-function mechanism confirmed.Created: 21 Jan 2016, 11:33 a.m.
Comment on phenotypes: Sources include OMIM and G2P.Created: 21 Jan 2016, 11:32 a.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for PNKP were set to Early infantile epileptic encephalopathy type 10; Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay
Phenotypes for PNKP were set to Early infantile epileptic encephalopathy type 10; Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay
Phenotypes for PNKP were set to early infantile epileptic encephalopathy type 10; Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay
Publications for PNKP were set to Shen et al (2010) Nature Genet 42(3): 245-251
The Gel status was updated for this whole panel
PNKP was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal
PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal
PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal
PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal
PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert