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Epileptic encephalopathy

Gene: PNKP

Green List (high evidence)

PNKP (polynucleotide kinase 3'-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000039650
EnsemblGeneIds (GRCh37): ENSG00000039650
OMIM: 605610, Gene2Phenotype
PNKP is in 10 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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.
21 Jan 2016, 11:33 a.m.
Comment on phenotypes: Sources include OMIM and G2P.
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

History Filter Activity

21 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Jan 2016, Gel status: 4

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

21 Jan 2016, Gel status: 4

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

21 Jan 2016, Gel status: 4

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

21 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PNKP were set to Shen et al (2010) Nature Genet 42(3): 245-251

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PNKP was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 4

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

1 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 4

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

1 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 3

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

1 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PNKP was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 2

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

1 Jul 2015, Gel status: 1

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