Maturity-onset Diabetes of the Young
Gene: HNF4AEnsemblGeneIds (GRCh38): ENSG00000101076
EnsemblGeneIds (GRCh37): ENSG00000101076
OMIM: 600281, Gene2Phenotype
HNF4A is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
While all known human heterozygous mutations are associated with the autosomal-dominant diabetes form MODY1, mutations in the DNA-binding domain (DBD) causes additional renal Fanconi syndrome (FRTS).Created: 4 May 2022, 5:35 a.m. | Last Modified: 4 May 2022, 5:35 a.m.
Panel Version: 0.13693
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; MODY, type I, OMIM # 125850
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Maturity Onset Diabetes of the Young
- MODY, type I, 125850
- OMIM 616026
- OMIM
- 600281
- Clinvar variants
- Variants in HNF4A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hnf4a has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: HNF4A were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HNF4A was added gene: HNF4A was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF4A were set to Maturity Onset Diabetes of the Young; MODY, type I, 125850; OMIM 616026