Early-onset Parkinson disease
Gene: DCAF17EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Dystonia rather parkinsonism appears to be a feature of this condition and this gene is one the dystonia panel.Created: 25 Mar 2020, 12:04 a.m. | Last Modified: 25 Mar 2020, 12:04 a.m.
Panel Version: 0.15
Cannot find any evidence that parkinsonism is prominent feature of this condition.Created: 25 Mar 2020, 12:03 a.m. | Last Modified: 25 Mar 2020, 12:03 a.m.
Panel Version: 0.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woodhouse-Sakati syndrome MIM#241080
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- OMIM
- 612515
- Clinvar variants
- Variants in DCAF17
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Monogenic Diabetes
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Early-onset Parkinson disease
- Regression
- Neurodegeneration with brain iron accumulation
- Leukodystrophy - paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dcaf17 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dcaf17 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DCAF17 was added gene: DCAF17 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: DCAF17 was set to Unknown