Renal Tubulointerstitial Disease
Gene: HNF1BEnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 15 panels
1 review
Michelle Torres (Victorian Clinical Genetics Services)
LoF is the main mechanism (PMID: 25536396). However, GoF (PMID: 11845238) and DN (PMID: 15509593) have also been reported. Genotype-phenotype correlation is unclear.Created: 18 Feb 2020, 4:02 a.m. | Last Modified: 18 Feb 2020, 4:02 a.m.
Panel Version: 0.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diabetes mellitus, noninsulin-dependent 125853 AD; Renal cysts and diabetes syndrome 137920 AD; {Renal cell carcinoma} 144700
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- KidGen_Tubulointerstitial v38.1.0
- Phenotypes
-
- Diabetes mellitus, noninsulin-dependent 125853 AD
- Renal cysts and diabetes syndrome 137920 AD
- {Renal cell carcinoma} 144700
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Ciliopathies
- Renal Tubulointerstitial Disease
- Cholestasis
- Monogenic Diabetes
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Maturity-onset Diabetes of the Young
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Fetal anomalies
- Additional findings_Paediatric
- Renal Macrocystic Disease
- Mendeliome
- Renal Tubulopathies and related disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hnf1b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HNF1B were changed from to Diabetes mellitus, noninsulin-dependent 125853 AD; Renal cysts and diabetes syndrome 137920 AD; {Renal cell carcinoma} 144700
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: HNF1B were set to
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: HNF1B was changed from to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HNF1B was added gene: HNF1B was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: HNF1B was set to Unknown