This Panel is marked as Internal
Dystonia - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Woodhouse-Sakati syndrome
- Dystonia
- OMIM
- 612515
- Clinvar variants
- Variants in DCAF17
- Penetrance
- None
- Panels with this gene
-
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Monogenic diabetes
- Hypogonadotropic hypogonadism
- Familial diabetes
- Adult onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism (GMS)
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: DCAF17 was added gene: DCAF17 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome; Dystonia