Neurodegeneration with brain iron accumulation
Gene: DCAF17
DCAF17 (DDB1 and CUL4 associated factor 17)
EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 15 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association. Affected individuals can present with brain iron accumulation along with other phenotypes associated with the disease.Created: 3 Dec 2024, 6:01 a.m. | Last Modified: 3 Dec 2024, 6:01 a.m.
Panel Version: 0.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woodhouse-Sakati syndrome MONDO:0009419
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- GeneReviews
- Expert Review Green
- Phenotypes
-
- Woodhouse-Sakati syndrome
- 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
10 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DCAF17 was added gene: DCAF17 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome