Severe microcephalyGene: NIPBL
Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for 'Conelia de Lange syndrome'. >3 cases reported of NIPBL variants causing CdLS, including at least 2 with microcephaly (PMID:27164022)
Created: 2 Mar 2017, 1:04 p.m.
Although the Cornelia de Lange syndromes (CdLS) are not part of the primary dwarfism spectrum and typically present with additional features other than microcephaly, they are included in this panel after clinical discussion, since a small proportion of cases may overlap with the microcephaly primary dwarfism spectrum.
Created: 2 Mar 2017, 1:03 p.m.
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).
Publications for NIPBL were set to 15146185; 27164022
NIPBL was created by rfoulger
NIPBL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature