Renal Tubulopathies and related disorders
Gene: HNF1B

HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

This gene causes RCAD, but hypomagnesaemia has been reported.
Sources: Expert list
Created: 20 Nov 2019, 5:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal cysts and diabetes syndrome, MIM#137920

Publications

27234911

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Nov 2019, 5:16 a.m.

Panel version: Imported from Renal Abnormalities of Magnesium Metabolism panel version 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list
Expert Review Green
Expert list

Phenotypes

Renal cysts and diabetes syndrome, MIM#137920

OMIM

189907

Clinvar variants

Variants in HNF1B

Penetrance

None

Publications

27234911

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: HNF1B was added gene: HNF1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF1B were set to 27234911 Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM#137920

Renal Tubulopathies and related disorders Gene: HNF1B