Renal Tubulopathies and related disorders
Gene: HNF4AEnsemblGeneIds (GRCh38): ENSG00000101076
EnsemblGeneIds (GRCh37): ENSG00000101076
OMIM: 600281, Gene2Phenotype
HNF4A is in 9 panels
1 review
Chirag Patel (Genetic Health Queensland)
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
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