Familial diabetes
Gene: POLD1
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: POLD1; 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: multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.Created: 11 Jan 2019, 10:04 a.m.
Comment on list classification: Gene added to the panel as green due to expert review.Created: 15 Jun 2016, 3:31 p.m.
Variants in this gene are reported as part of current diagnostic practiceCreated: 16 Oct 2015, 9:28 a.m.
Mutation-specific effectCreated: 16 Oct 2015, 9:27 a.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for POLD1 were set to multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
This gene has been classified as Green List (High Evidence).
POLD1 was added to Familial diabetespanel. Sources: Expert Review