Monogenic diabetesGene: 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.
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.
Phenotypes for gene: ZBTB20 were changed from Primrose syndrome to Primrose syndrome, 259050; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)
Ivone Leong: Initial gene list and info col
Gene: zbtb20 has been classified as Green List (High Evidence).
Source NHS GMS was added to ZBTB20.
Mode of inheritance for gene ZBTB20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene ZBTB20 were changed from to 25017102; 20644156
gene: ZBTB20 was added gene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB20 were set to Primrose syndrome