Familial diabetes
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: Diabetes.Created: 11 Jan 2019, 10:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)
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, 3:05 p.m.
Publications
Mutations also cause hyperinsulinaemic hypoglycaemia in ~10% and macrosomiaCreated: 19 Aug 2015, 9:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#616026
This gene has been classified as Green List (High Evidence).
Phenotypes for HNF4A were set to MODY, type I, 125850; Maturity Onset Diabetes of the Young; OMIM 616026
Mode of inheritance for HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
HNF4A was added to Familial diabetespanel. Sources: UKGTN
HNF4A was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services
HNF4A was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen
HNF4A was added to Familial diabetespanel. Sources: Emory Genetics Laboratory