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Intellectual disability

Gene: DPP6

Green List (high evidence)

DPP6 (dipeptidyl peptidase like 6)
EnsemblGeneIds (GRCh38): ENSG00000130226
EnsemblGeneIds (GRCh37): ENSG00000130226
OMIM: 126141, Gene2Phenotype
DPP6 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on list classification: Updated rating from Red to Green based on 3 unrelated cases described in PMID:23832105. 3 patients, 2 deletions and a missense.
Created: 3 Mar 2017, 1:26 p.m.
Added 'deletions' tag based on 2 deletions (336 kb and 362 kb) described in PMID:23832105.
Created: 3 Mar 2017, 1:25 p.m.
Comment on mode of inheritance: Mode of inheritance taken from PMID:23832105.
Created: 3 Mar 2017, 1:25 p.m.
PMID:23832105 (Liao et al., 2013) show that LOF variation in the DPP6 gene is associated with AD microcephaly and mental retardation. In 3 patients they identify 2 de novo deletions (336kb and 362kb in patients BY0712 and BY2018) and a missense variant (patient BY2950: M385L). Microcephaly plus moderate to severe mental retardation is noted in all 3 individuals (Table 1).
Created: 3 Mar 2017, 1:24 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant microcephaly and mental retardation; Mental retardation, autosomal dominant 33, 616311

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • 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

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

3 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).

3 Mar 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

3 Mar 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DPP6 was added to Intellectual disabilitypanel. Sources: Other

3 Mar 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

DPP6 was created by rfoulger