Severe microcephalyGene: DDX11
Comment on list classification: Updated rating from Red to Green: 1 Amber rating, 3 unrelated cases (2010, 2013, 2015) in different populations plus functional studies plus confirmed DD-G2P gene for MIM:613398.
Created: 27 Feb 2017, 2:16 p.m.
PMID:25701697 (Bailet et al., 2015) report a 3rd case (British child) with Warsaw Breakage syndrome (WABS) with 2 confirmed mutations (c.638+1G>A and c.1888delC) in DDX11. The patient had (amongst other symptoms) pre- and postnatal growth retardation, severe microcephaly, intellectual disability and facial dysmorphism.
Created: 27 Feb 2017, 2:13 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 DDX11 were set to 23033317; 20137776; 25701697
DDX11 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen,Literature
DDX11 was created by agardham