Renal Tubulopathies and related disorders

Gene: HNF4A

Green List (high evidence)

HNF4A (hepatocyte nuclear factor 4 alpha)
EnsemblGeneIds (GRCh38): ENSG00000101076
EnsemblGeneIds (GRCh37): ENSG00000101076
OMIM: 600281, Gene2Phenotype
HNF4A is in 9 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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).

Multiple patients reported.
Created: 9 Jan 2020, 5:04 a.m. | Last Modified: 9 Jan 2020, 5:04 a.m.
Panel Version: 0.8

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
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • MODY, type I, OMIM # 125850
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
OMIM
600281
Clinvar variants
Variants in HNF4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HNF4A was added gene: HNF4A was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF4A were set to 31875549; 30005691; 28458902; 24285859; 22802087 Phenotypes for gene: HNF4A were set to MODY, type I, OMIM # 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026