Congenital hyperinsulinism

Gene: HNF4A

Green List (high evidence)

HNF4A (hepatocyte nuclear factor 4 alpha)
EnsemblGeneIds (GRCh38): ENSG00000101076
EnsemblGeneIds (GRCh37): ENSG00000101076
OMIM: 600281, Gene2Phenotype
HNF4A is in 10 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

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

Ellen Thomas (Genomics England Curator)

Comment on list classification: Mutations which cause monogenic diabetes can present in infancy with hyperinsulinemic hypoglycaemia.
Created: 12 Apr 2016, 8:18 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperinsulinism, Dominant
  • Autosomal dominant Hyperinsulinism
  • MODY, type I, 125850
OMIM
600281
Clinvar variants
Variants in HNF4A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HNF4A were changed from Hyperinsulinism, Dominant to Hyperinsulinism, Dominant; Autosomal dominant Hyperinsulinism; MODY, type I, 125850

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HNF4A. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Apr 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for HNF4A were set to 22802087

12 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HNF4A was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services