Renal cystic disease_SuperPanel_KidGen_VCGS
Gene: HNF1BEnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- KidGen_Cystic v38.1.0
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- Panels with this gene
-
- CAKUT
- DDG2P
- Neonatal diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Tubulointerstitial kidney disease
- Renal tubulopathies
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Cholestasis
- Intellectual disability
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Familial diabetes
- Rare multisystem ciliopathy disorders
- Multi-organ autoimmune diabetes
- Cystic kidney disease
- Neonatal cholestasis
History Filter Activity
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: HNF1B was added gene: HNF1B was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: HNF1B was set to Unknown