Familial diabetesGene: DCAF17
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.
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.
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.
Gene: dcaf17 has been classified as Green List (High Evidence).
Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, 241080
Publications for gene: DCAF17 were set to 19026396; 20507343
This gene has been classified as Red List (Low Evidence).
DCAF17 was added to Familial diabetespanel. Sources: Expert Review