Familial diabetes
Gene: DCAF17
DCAF17 (DDB1 and CUL4 associated factor 17)
EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 12 panels
4 reviews
Jayne Houghton (Royal Devon and Exeter Foundation Trust)
Woodhouse-Sakati syndrome (MIM241080) is a rare autosomal recessive genetic condition caused by homozygous variants withinDCAF17. Young-onset diabetes is a common feature of this syndrome, occurring in 66% of cases and 96% of patients aged over 25 years (PMID:24464444)Created: 15 Feb 2019, 10:28 a.m.
Publications
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to green based on the new evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).Created: 1 Mar 2019, 2:13 p.m.
Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).Created: 28 Jan 2019, 9:39 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: DCAF17; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness).Created: 11 Jan 2019, 10:04 a.m.
Sian Ellard (University of Exeter Medical School)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added to the red list on the panel due to expert review.Created: 15 Jun 2016, 3:29 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Woodhouse-Sakati syndrome, 241080
- OMIM
- 612515
- Clinvar variants
- Variants in DCAF17
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism
- DDG2P
- Adult onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism (GMS)
- Adult onset neurodegenerative disorder
- Familial diabetes
History Filter Activity
1 Mar 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: dcaf17 has been classified as Green List (High Evidence).
1 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, 241080
1 Mar 2019, Gel status: 1
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: DCAF17 were set to 19026396; 20507343
15 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
16 Oct 2015, Gel status: 0
Added New Source
Sian Ellard (University of Exeter Medical School)DCAF17 was added to Familial diabetespanel. Sources: Expert Review