Microcephaly
Gene: DPP6EnsemblGeneIds (GRCh38): ENSG00000130226
EnsemblGeneIds (GRCh37): ENSG00000130226
OMIM: 126141, Gene2Phenotype
DPP6 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
DISPUTED by ClinGen.Created: 13 May 2024, 8:25 a.m. | Last Modified: 13 May 2024, 8:25 a.m.
Panel Version: 1.258
Comment when marking as ready: Single LP variant in ClinVar but reported phenotype is schizophrenia. Original study dates to 2013. Association studies with dementia, and suggested role in tardive dyskinesia.Created: 2 Sep 2020, 9:17 p.m. | Last Modified: 2 Sep 2020, 9:19 p.m.
Panel Version: 0.370
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability, autosomal dominant 33 (MIM#616311)
Ain Roesley (Victorian Clinical Genetics Services)
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
- mouse KO model with significantly smaller brain weight
*unable to find new reports since
Sources: LiteratureCreated: 2 Sep 2020, 11:52 a.m.
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, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Intellectual disability, autosomal dominant 33 (MIM#616311)
- Tags
- OMIM
- 126141
- Clinvar variants
- Variants in DPP6
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: DPP6.
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)
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpp6 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpp6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpp6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpp6 has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: DPP6.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: DPP6 was added gene: DPP6 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: DPP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DPP6 were set to 23832105 Phenotypes for gene: DPP6 were set to Mental retardation, autosomal dominant 33 (MIM#616311) Penetrance for gene: DPP6 were set to unknown Review for gene: DPP6 was set to AMBER