Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: HNF4AEnsemblGeneIds (GRCh38): ENSG00000101076
EnsemblGeneIds (GRCh37): ENSG00000101076
OMIM: 600281, Gene2Phenotype
HNF4A is in 10 panels
3 reviews
Ellen Thomas (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)
Sian Ellard (University of Exeter Medical School)
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, 3:07 p.m.
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- MODY, type I, 125850
- {Diabetes mellitus, noninsulin-dependent}, 125853
- Maturity Onset Diabetes of the Young
- Maturity-onset diabetes of the young (MODY)
- Maturity-Onset Diabetes Of The Young
- MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
- MODY1
- #616026
- OMIM
- 600281
- Clinvar variants
- Variants in HNF4A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for HNF4A were set to MODY, type I, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young (MODY); Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1;#616026
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HNF4A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)HNF4A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF4A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HNF4A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)HNF4A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen