Adult onset dystonia, chorea or related movement disorder
Gene: DCAF17EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Woodhouse-Sakati syndrome, OMIM:241080
- OMIM
- 612515
- Clinvar variants
- Variants in DCAF17
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Hypogonadotropic hypogonadism
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Intellectual disability
- Familial diabetes
- Adult onset neurodegenerative disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome; Dystonia to Woodhouse-Sakati syndrome, OMIM:241080
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DCAF17.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to DCAF17.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DCAF17 was added gene: DCAF17 was added to Adult onset movement disorder. 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