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Intellectual disability syndromic and non-syndromic

Gene: DPP6

Red List (low evidence)

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

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID and Autism GCEP on 05/05/2021 - https://search.clinicalgenome.org/CCID:004701
Created: 13 May 2024, 5:52 a.m. | Last Modified: 13 May 2024, 5:52 a.m.
Panel Version: 0.5798

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder MONDO:0100038

Publications

  • https://search.clinicalgenome.org/CCID:004701

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Note that missense was found using candidate gene approach in a cohort of microcephalic patients. There have been no further reports since 2013. A single LP variant is present in ClinVar but associated with schizophrenia.
Created: 2 Sep 2020, 9:32 p.m. | Last Modified: 2 Sep 2020, 9:32 p.m.
Panel Version: 0.2934

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 33 (MIM#616311)

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 23832105
- 1x proband (OFC < -3 SD) with a missense which segregated in 3 other family members
- 2x probands with 336kb deletion. Both OFCs < -3 SD
- ID reported in all
- mouse KO model with significantly smaller brain weight

*unable to find new reports since
Created: 2 Sep 2020, 11:56 a.m. | Last Modified: 2 Sep 2020, 11:56 a.m.
Panel Version: 0.2934

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 33 (MIM#616311)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability, autosomal dominant 33 (MIM#616311)
Tags
disputed
OMIM
126141
Clinvar variants
Variants in DPP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DPP6 were changed from Mental retardation, autosomal dominant 33 (MIM#616311) to Intellectual disability, autosomal dominant 33 (MIM#616311)

13 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dpp6 has been classified as Red List (Low Evidence).

13 May 2024, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: DPP6.

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DPP6 were changed from to Mental retardation, autosomal dominant 33 (MIM#616311)

2 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DPP6 were set to

2 Sep 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DPP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DPP6 was added gene: DPP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPP6 was set to Unknown