Severe microcephalyGene: WDR73
Comment on list classification: Updated rating from Red to Green following advice from Genomics England clinicians: >3 cases of WDR73 mutations causing Galloway-Mowat syndrome- although this disorder presents with postnatal microcephaly, WDR73 is reasonable to include on the panel because microcephaly is very very early onset, and has even been reported in-utero in PMID:18019379.
9 Feb 2017, 9:38 a.m.
Although Galloway-Mowat syndrome (OMIM:251300), presents with postnatal microcephaly (PMID:25466283), PMID:18019379 present a case where microcephaly is recorded in-utero.
19 Jan 2017, 11:04 a.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 WDR73 were set to PMID:18019379 report on a 31-year-old pregnant woman with abnormal ultrasound findings and a previous child with Galloway-Mowat syndrome. During this pregnancy, microcephaly, intrauterine growth restriction (IUGR), and oligohydramnios were first noted at 27 weeks of gestation.
WDR73 was created by rfoulger
WDR73 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other