Monogenic diabetes

Gene: DCAF17

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

• 24464444

Green List (high evidence)

Comment on phenotypes: Previous phenotypes:
Woodhouse-Sakati syndrome, 241080;Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)

Created: 3 Mar 2021, 3:48 p.m. | Last Modified: 3 Mar 2021, 3:48 p.m.

Panel Version: 2.9

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.

Red List (low evidence)

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.