Cystic kidney disease
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
2 reviews
Miranda Durkie (Genetics)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Important cause of cystic kidney disease.Created: 10 May 2016, 9:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Renal cysts and diabetes syndrome
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Tubulointerstitial kidney disease
- CAKUT
- Intellectual disability
- DDG2P
- Neonatal diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Renal tubulopathies
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Cholestasis
- 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
- Fetal anomalies
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Oct 2015, Gel status: 0
Set Mode of Inheritance
Miranda Durkie (Genetics)Model of inheritance for gene HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
9 Oct 2015, Gel status: 0
Added New Source
Miranda Durkie (Genetics)HNF1B was added to Cystic kidney diseasepanel. Source: UKGTN
9 Oct 2015, Gel status: 0
Added New Source
Miranda Durkie (Genetics)HNF1B was added to Cystic kidney diseasepanel. Sources: Literature,UKGTN