Dystonia - complex
Gene: DCAF17EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 15 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
>3 unrelated individuals reported with variants in DCAF17. Affected individuals present with a range of features including dystonia and alopecia.
There is a common frameshift variant that has been reported as a founder variant in the Saudi Arabian/Middle Eastern population (NM_025000.4:c.436delC (p.(Ala147Hisfs*9)).Created: 6 Dec 2024, 4:03 a.m. | Last Modified: 6 Dec 2024, 4:03 a.m.
Panel Version: 0.242
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woodhouse-Sakati syndrome MONDO:0009419
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Woodhouse-Sakati syndrome MONDO:0009419
- Dystonia
- OMIM
- 612515
- Clinvar variants
- Variants in DCAF17
- Penetrance
- None
- Publications
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dcaf17 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome; Dystonia to Woodhouse-Sakati syndrome MONDO:0009419; Dystonia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DCAF17 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DCAF17 was added gene: DCAF17 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,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