Severe microcephaly
Gene: CENPJ
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. Multiple affected individuals reported. Confirmed as DD on G2PCreated: 12 Jan 2017, 10:40 a.m.
Comment when marking as ready: expert list. Multiple affected individuals reported. Confirmed as DD on G2PCreated: 12 Jan 2017, 10:40 a.m.
Source NHS GMS was added to CENPJ.
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).
This gene has been classified as Green List (High Evidence).
Publications for CENPJ were set to 16900296,
CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
CENPJ was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
CENPJ was created by rfoulger