Epileptic encephalopathy
Gene: PNKPEnsemblGeneIds (GRCh38): ENSG00000039650
EnsemblGeneIds (GRCh37): ENSG00000039650
OMIM: 605610, Gene2Phenotype
PNKP is in 12 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Shen et al (2010) Nature Genet 42(3): 245-251
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Shen et al (2010) Nature Genet 42(3): 245-251
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Shen et al (2010) Nature Genet 42(3): 245-251
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Shen et al (2010) Nature Genet 42(3): 245-251
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
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Early infantile epileptic encephalopathy type 10
- Ataxia-oculomotor apraxia 4
- Microcephaly, seizures, and developmental delay
- OMIM
- 605610
- Clinvar variants
- Variants in PNKP
- Penetrance
- Complete
- Publications
-
- Shen et al (2010) Nature Genet 42(3): 245-251
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PNKP were set to Early infantile epileptic encephalopathy type 10; Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PNKP were set to Early infantile epileptic encephalopathy type 10; Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PNKP were set to early infantile epileptic encephalopathy type 10; Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PNKP were set to Shen et al (2010) Nature Genet 42(3): 245-251
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)PNKP was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)PNKP was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert