Familial diabetes

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: Diabetes.
Created: 11 Jan 2019, 10:04 a.m.

Ellen Thomas (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)

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, 3:05 p.m.

Publications

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mutations also cause hyperinsulinaemic hypoglycaemia in ~10% and macrosomia
Created: 19 Aug 2015, 9:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#616026

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • MODY, type I, 125850
  • Maturity Onset Diabetes of the Young
  • OMIM 616026
OMIM
600281
Clinvar variants
Variants in HNF4A
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HNF4A were set to MODY, type I, 125850; Maturity Onset Diabetes of the Young; OMIM 616026

7 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

HNF4A was added to Familial diabetespanel. Sources: UKGTN

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

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

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

HNF4A was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HNF4A was added to Familial diabetespanel. Sources: Emory Genetics Laboratory