This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
Gene: HNF1B
HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- Panels with this gene
-
- Neonatal cholestasis
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Cholestasis
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Familial diabetes
- Neonatal diabetes
- Ductal plate malformation
- Cystic kidney disease
- Multi-organ autoimmune diabetes
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)HNF1B was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)HNF1B was created by Sarah Leigh