Monogenic diabetes

Gene: DCAF17

Green List (high evidence)

DCAF17 (DDB1 and CUL4 associated factor 17)
EnsemblGeneIds (GRCh38): ENSG00000115827
EnsemblGeneIds (GRCh37): ENSG00000115827
OMIM: 612515, Gene2Phenotype
DCAF17 is in 12 panels

4 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Green List (high evidence)

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)

Green List (high evidence)

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)

Red List (low evidence)

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
  • Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)
OMIM
612515
Clinvar variants
Variants in DCAF17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080 to Woodhouse-Sakati syndrome, 241080; Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, 241080

1 May 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DCAF17 were set to 20507343; 19026396

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

28 Jan 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).

11 Jan 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DCAF17.

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

gene: DCAF17 was added gene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCAF17 were set to 20507343; 19026396