Monogenic 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 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.
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)
Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, 241080
Publications for gene: DCAF17 were set to 20507343; 19026396
Ivone Leong: Initial gene list and info col
Gene: dcaf17 has been classified as Green List (High Evidence).
Source NHS GMS was added to DCAF17.
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