Severe microcephaly
Gene: PNKPEnsemblGeneIds (GRCh38): ENSG00000039650
EnsemblGeneIds (GRCh37): ENSG00000039650
OMIM: 605610, Gene2Phenotype
PNKP is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
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).Created: 19 Jan 2017, 11:09 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- 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
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Fetal anomalies
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Severe microcephaly
- Adult onset neurodegenerative disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PNKP.
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
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
Created
Rebecca Foulger (Genomics England curator)PNKP was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)PNKP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen