Monogenic Diabetes
Gene: HNF1BEnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 15 panels
1 review
Hali Van Niel (University of Melbourne)
Well established gene disease association of Renal cysts and diabetes syndrome, phenotype includes early-onset diabetes mellitusCreated: 30 Apr 2024, 6:07 a.m. | Last Modified: 30 Apr 2024, 6:07 a.m.
Panel Version: 0.52
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
renal cysts and diabetes syndrome MONDO:0007669
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- renal cysts and diabetes syndrome MONDO:0007669
- Tags
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- Publications
- 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 RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700 to renal cysts and diabetes syndrome MONDO:0007669
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: HNF1B were set to
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: HNF1B.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HNF1B was added gene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700