Monogenic Diabetes
Gene: DCAF17EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 15 panels
1 review
Hali Van Niel (University of Melbourne)
Established gene disease association for Woodhouse-Sakati syndrome (also referred to as C2ORF37 gene), diabetes mellitus common presentation of syndromeCreated: 2 May 2024, 12:59 a.m. | Last Modified: 2 May 2024, 12:59 a.m.
Panel Version: 0.58
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
- NHS GMS
- Phenotypes
-
- Woodhouse-Sakati syndrome MONDO:0009419
- 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 (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080 to Woodhouse-Sakati syndrome MONDO:0009419
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DCAF17 were set to 24464444; 19026396; 20507343
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DCAF17 was added gene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCAF17 were set to 24464444; 19026396; 20507343 Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080