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Research panel - Severe Paediatric Disorders

Gene: DPP6

Amber List (moderate evidence)
DPP6 (dipeptidyl peptidase like 6)
EnsemblGeneIds (GRCh38): ENSG00000130226
EnsemblGeneIds (GRCh37): ENSG00000130226
OMIM: 126141, Gene2Phenotype
DPP6 is in 3 panels

3 reviews

Sarah Leigh (Genomics England Curator)

I don't know

DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z) therefore, this gene will remain amber.
Created: 29 Aug 2024, 2:34 p.m. | Last Modified: 29 Aug 2024, 3:33 p.m.
Panel Version: 1.189

Publications

Created: 29 Aug 2024, 2:34 p.m.
Last Modified: 29 Aug 2024, 3:33 p.m.
Panel version: 1.188

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

This gene is currently red/amber for other panels on panelapp and there is insufficient evidence for it to be green for R27 at the moment. Suggest gene is downgraded to amber pending more cases being reported
Created: 16 May 2024, 2:09 p.m. | Last Modified: 16 May 2024, 2:09 p.m.
Panel Version: 1.184

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 16 May 2024, 2:09 p.m.
Last Modified: 16 May 2024, 2:09 p.m.
Panel version: 1.184

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DPP6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, autosomal dominant 33, 616311 (3); Mode of inheritance: ND | Autosomal dominant
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:18 p.m.
Last Modified: 20 Feb 2020, 5:18 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Next Generation Children Project
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 33, 616311
OMIM
126141
Clinvar variants
Variants in DPP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dpp6 has been classified as Amber List (Moderate Evidence).

29 Aug 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DPP6 were set to 21943606; 23832105; 29651237; 30847515

29 Aug 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DPP6 were set to 30847515

29 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dpp6 has been classified as Green List (High Evidence).

29 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dpp6 has been classified as Amber List (Moderate Evidence).

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DPP6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene DPP6 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, autosomal dominant 33, 616311 for gene: DPP6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, autosomal dominant 33, 616311 for gene: DPP6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, autosomal dominant 33, 616311 for gene: DPP6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, autosomal dominant 33, 616311 for gene: DPP6

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to DPP6.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to DPP6. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DPP6 was added gene: DPP6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DPP6 was set to