Early onset dystonia
Gene: DCAF17EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 12 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Discussed internally and should be on the dystonia panel.Created: 2 Sep 2016, 11:38 a.m.
Comment on list classification: It is a possible DD gene for Woodhouse-Sakati syndrome (which includes dystonia as a clinical feature). Multiple cases from different ethnicities reported in OMIM, with different variants.Created: 23 Aug 2016, 1:45 p.m.
Comment on list classification: Promoted from red to green due to feedback from Huw Morris (UCL). From the GeneReviews Neurodegeneration with Brain Iron Accumulation Disorders Overview, list of the genetic basis of ten types of NBIA (http://www.ncbi.nlm.nih.gov/books/NBK121988/)Created: 19 Aug 2016, 9:23 a.m.
Comment on list classification: This gene is not mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:15 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- Woodhouse-Sakati syndrome
- OMIM
- 612515
- Clinvar variants
- Variants in DCAF17
- Penetrance
- Complete
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Hypogonadotropic hypogonadism
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Familial diabetes
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DCAF17 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DCAF17 were set to Dystonia; Woodhouse-Sakati syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()DCAF17 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory