Transplant Co-Morbidity Superpanel
Gene: HNF1B
HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 15 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Transient neonatal diabetes
- RCAD
- RENAL CYSTS AND DIABETES SYNDROME
- Maturity-Onset Diabetes Of The Young
- renal malformation
- {Renal cell carcinoma}, 144700
- Renal cysts and diabetes syndrome, 137920
- Diabetes mellitus, noninsulin-dependent, 125853
- Renal Cysts and Diabetes Syndrome
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- 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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HNF1B was added gene: HNF1B was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to Transient neonatal diabetes; RCAD; RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome