Severe microcephalyGene: DPP6
Comment on list classification: Updated rating from Red to Green based on 3 unrelated cases described in PMID:23832105- 2 deletions and a missense.
2 Mar 2017, 2:55 p.m.
Added 'deletions' tag based on 2 deletions (336 kb and 362 kb) described in PMID:23832105.
2 Mar 2017, 11:49 a.m.
PMID:23832105 (Liao et al., 2013) identify 2 de novo deletions and 1 missense mutation in familial microcephalic patients.
A 5 year old girl carried the missense (c.1153A-C (NM_130797) transversion, M385L). The same mutation was identified in her affected mother, aunt and grandfather. Patient BY0712 harboured a 336 kb deletion. Patient BY2018 harbored a362 kb deletion.
27 Feb 2017, 2:44 p.m.
DPP6 is on the Expert list for MCPH (primary microcephaly) from Andrew Jackson but with the caution that only a single mutation or family is reported in the literature.
13 Dec 2016, 12:11 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).
Phenotypes for DPP6 were set to MCPH; primary microcephaly; autosomal dominant microcephaly and mental retardation; Mental retardation, autosomal dominant 33, 616311
Mode of inheritance for DPP6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for DPP6 were set to 23832105
Phenotypes for DPP6 were set to MCPH; primary microcephaly; autosomal dominant microcephaly and mental retardation
DPP6 was created by rfoulger
DPP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list