Severe microcephaly
Gene: CKAP2L
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 on list classification: Recognised on G2P. Mutations identified in at least five familiesCreated: 12 Jan 2017, 12:34 p.m.
Andrew Jackson (Professor of Human Genetics) agrees that it is reasonable to include CKAP2L (the Filippi gene) on this panel.Created: 3 Jan 2017, 10:17 a.m.
Source NHS GMS was added to CKAP2L.
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).
CKAP2L was created by rfoulger
CKAP2L was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other