Familial diabetes

Gene: ZBTB20

Green List (high evidence)

ZBTB20 (zinc finger and BTB domain containing 20)
EnsemblGeneIds (GRCh38): ENSG00000181722
EnsemblGeneIds (GRCh37): ENSG00000181722
OMIM: 606025, Gene2Phenotype
ZBTB20 is in 8 panels

4 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Green List (high evidence)

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Sian Ellard (University of Exeter Medical School)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to the panel as red due to expert review.
Created: 15 Jun 2016, 3:32 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primrose syndrome, 259050
OMIM
606025
Clinvar variants
Variants in ZBTB20
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: zbtb20 has been classified as Green List (High Evidence).

1 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ZBTB20 were changed from to Primrose syndrome, 259050

28 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

15 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Oct 2015, Gel status: 0

Added New Source

Sian Ellard (University of Exeter Medical School)

ZBTB20 was added to Familial diabetespanel. Sources: Expert Review