Severe microcephaly

Gene: DPP6

Green List (high evidence)

DPP6 (dipeptidyl peptidase like 6)
EnsemblGeneIds (GRCh38): ENSG00000130226
EnsemblGeneIds (GRCh37): ENSG00000130226
OMIM: 126141, Gene2Phenotype
DPP6 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • autosomal dominant microcephaly and mental retardation
  • Mental retardation, autosomal dominant 33, 616311
Tags
deletions
OMIM
126141
Clinvar variants
Variants in DPP6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for DPP6 were set to MCPH; primary microcephaly; autosomal dominant microcephaly and mental retardation; Mental retardation, autosomal dominant 33, 616311

27 Feb 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for DPP6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Feb 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for DPP6 were set to 23832105

27 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for DPP6 were set to MCPH; primary microcephaly; autosomal dominant microcephaly and mental retardation

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

DPP6 was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DPP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list