Familial 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 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)

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.

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