Severe microcephalyGene: CTNNB1
Comment on list classification: Updated rating from Red to Green: > 3 cases of CTNNB1 variations presenting with (amongst other phenotypes) microcephaly (see PMID:25326669 and PMID:26968164 for examples). CTNNB1 is also on the ID panel.
2 Mar 2017, 10:31 a.m.
Added CTNNB1 to panel as suggested by Arianna Tucci based on papers including PMID:25326669 (Kuechler et al., 2015): In 16 individuals from 15 families with de novo LOF CTNNB1 mutations, 12 patients had microcephaly (typically −2 to −4 SD).
2 Mar 2017, 10:29 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 CTNNB1 were set to 25326669; 26968164
CTNNB1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
CTNNB1 was created by rfoulger