Severe microcephaly
Gene: PCNT
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
Comment when marking as ready: Expert list.Created: 12 Jan 2017, 11:09 a.m.
Phenotypes for gene: PCNT were changed from MPD; microcephalic primordial dwarfism; Microcephalic Osteodysplastic Primordial Dwarfism; Microcephalic osteodysplastic primordial dwarfism, type II, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720; Microcephalic primordial dwarfism
Source NHS GMS was added to PCNT.
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.
This gene has been classified as Green List (High Evidence).
PCNT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
PCNT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
PCNT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
PCNT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene PCNT was set to BIALLELIC, autosomal or pseudoautosomal
PCNT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
PCNT was created by rfoulger