Groopman et al 2019 - Genes with diagnostic variants

Gene: HNF1A

Green List (high evidence)

HNF1A (HNF1 homeobox A)
EnsemblGeneIds (GRCh38): ENSG00000135100
EnsemblGeneIds (GRCh37): ENSG00000135100
OMIM: 142410, Gene2Phenotype
HNF1A is in 6 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: HNF1A; Inheritance: AD; Clinical diagnosis: Diabetic nephropathy; Nephropathy of unknown origin; Genetic diagnosis: MODY type III; OMIM phenotype MIM no.: 600496; Number of cases: 5
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert review green
  • Literature
Phenotypes
  • MODY type III
  • Nephropathy of unknown origin
  • Diabetic nephropathy
  • MIM 600496
OMIM
142410
Clinvar variants
Variants in HNF1A
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to HNF1A. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: HNF1A was added gene: HNF1A was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF1A were set to MODY type III; Nephropathy of unknown origin; Diabetic nephropathy; MIM 600496