Familial diabetes
Gene: ZBTB20
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants withinZBTB20.4 patients with diabetes and 3 with impaired glucose tolerance and Primrose syndrome have been reported (PMID:25017102). Diabetes is likely to be under-reported in this syndrome since it was not always investigated in the literature reports, and patients were young at investigation and may not have developed diabetes which typically develops after the cardinal clinical features appear. Mice with ? cell-specific knockout of Zbtb20 had normal development of b-cells but had hyperglycaemia, hypoinsulinaemia, glucose intolerance, and impaired glucose-stimulated insulin secretion. Islets isolated from these mice had impaired glucose metabolism, adenosine triphosphate production, and insulin secretion after glucose stimulation in vitro. ZBTB20 knockdown with small interfering RNAs impaired glucose-stimulated insulin secretion in the ? cell line MIN6 (PMID:22374165).Created: 15 Feb 2019, 10:28 a.m.
Publications
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, 2:23 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, 9:40 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:ZBTB20; 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: Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications).Created: 11 Jan 2019, 10:04 a.m.
Comment on list classification: Gene added to the panel as red due to expert review.Created: 15 Jun 2016, 3:32 p.m.
Gene: zbtb20 has been classified as Green List (High Evidence).
Phenotypes for gene: ZBTB20 were changed from to Primrose syndrome, 259050
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ZBTB20 was added to Familial diabetespanel. Sources: Expert Review