Severe microcephaly

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

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green after clinical discussions. PNKP is a confirmed DDG2P gene for Microcephaly, seizures, and developmental delay (OMIM:6134020). >3 cases of PNKP mutations linked to OMIM:6134020 (from Shen et al., 2010, PMID:20118933).
19 Jan 2017, 11:09 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, seizures, and developmental delay, 613402
OMIM
605610
Clinvar variants
Variants in PNKP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

19 Jan 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

PNKP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN Model of inheritance for gene PNKP was set to BIALLELIC, autosomal or pseudoautosomal

19 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

PNKP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen

19 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PNKP was created by rfoulger