Congenital hyperinsulinism
Gene: HNF4A
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: HNF4A; 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Novel autosomal dominant variant autosomal dominant (LRG_483t1: c.427-1G>A) in patient with hyperinsulinemic hypoglycemia, physiological 3-OH butyrate, increased triglyceride serum levels, increased level of glycogen in erythrocytes, increased liver transaminases, and increased echogenicity on liver ultrasonography.Created: 14 Aug 2017, 3:06 p.m.
Publications
Comment on list classification: Mutations which cause monogenic diabetes can present in infancy with hyperinsulinemic hypoglycaemia.Created: 12 Apr 2016, 8:18 a.m.
Phenotypes for gene: HNF4A were changed from Hyperinsulinism, Dominant to Hyperinsulinism, Dominant; Autosomal dominant Hyperinsulinism; MODY, type I, 125850
Source NHS GMS was added to HNF4A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for HNF4A were set to 22802087
This gene has been classified as Green List (High Evidence).
HNF4A was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services