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  3. HNF4A
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Kidneyome_SuperPanel_VCGS

Gene: HNF4A

Green List (high evidence)
HNF4A (hepatocyte nuclear factor 4 alpha)
EnsemblGeneIds (GRCh38): ENSG00000101076
EnsemblGeneIds (GRCh37): ENSG00000101076
OMIM: 600281, Gene2Phenotype
HNF4A is in 10 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
  • MODY, type I, OMIM # 125850
OMIM
600281
Clinvar variants
Variants in HNF4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: HNF4A was added gene: HNF4A was added to Kidneyome_SuperPanel_VCGS. 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 24285859; 31875549; 28458902; 30005691; 22802087 Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; MODY, type I, OMIM # 125850