Congenital hyperinsulinism
Gene: HNF1A
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: HNF1A; 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: Autosomal dominant Hyperinsulinism.Created: 11 Jan 2019, 2:24 p.m.
Comment on list classification: Mutations which can cause monogenic diabetes can present in infancy with hyperinsulinemic hypoglycaemia.Created: 12 Apr 2016, 8:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Gene added by Sian Ellard (University of Exeter Medical School).Created: 30 Mar 2016, 7:53 a.m.
Phenotypes for gene: HNF1A were changed from to Autosomal dominant Hyperinsulinism; MODY, type III, 600496
Source NHS GMS was added to HNF1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for HNF1A were set to 22802087
Mode of inheritance for HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
HNF1A was added to Hyperinsulinismpanel. Sources: Expert Review
HNF1A was created by ellenmcdonagh