Monogenic 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 13 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
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity-Onset Diabetes Of The Young, Type 1
  • MODY1, 125850
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026
OMIM
600281
Clinvar variants
Variants in HNF4A
Penetrance
None
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 {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; OMIM 616026; #616026; Maturity Onset Diabetes of the Young to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young

1 May 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HNF4A were set to

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HNF4A.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young for gene: HNF4A

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HNF4A was added gene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF4A were set to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; #616026; Maturity Onset Diabetes of the Young