Groopman et al 2019 - Genes with diagnostic variants
Gene: HNF1A

HNF1A (HNF1 homeobox A)
EnsemblGeneIds (GRCh38): ENSG00000135100
EnsemblGeneIds (GRCh37): ENSG00000135100
OMIM: 142410, Gene2Phenotype
HNF1A is in 5 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

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

Groopman et al 2019 - Genes with diagnostic variants Gene: HNF1A