Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: DCAF17
DCAF17 (DDB1 and CUL4 associated factor 17)
EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 12 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert Review
- OMIM
- 612515
- Clinvar variants
- Variants in DCAF17
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Early onset dystonia
- Hypogonadotropic hypogonadism
- Familial diabetes
- Adult onset neurodegenerative disorder
- Hypogonadotropic hypogonadism (GMS)
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
History Filter Activity
23 Aug 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Aug 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Aug 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DCAF17 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review
23 Aug 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DCAF17 was created by ellenmcdonagh