Familial diabetes
Gene: HNF1B
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: HNF1B; 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: Diabetes and renal cysts.Created: 11 Jan 2019, 10:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from amber to green due to two expert reviews.Created: 7 Jun 2016, 9:29 a.m.
Routine diagnostic testing for familial diabetes (usually with renal defects but should be included even without known renal disease due to variable expression).Created: 15 Oct 2015, 7:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Mode of inheritance for HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
HNF1B was added to Familial diabetespanel. Sources: UKGTN
HNF1B was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen