Unexplained kidney failure in young people
Gene: HNF1BEnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 1:38 p.m.
Comment on phenotypes: Also associated with Diabetes mellitus, noninsulin-dependent 125853 and {Renal cell carcinoma} 144700Created: 4 Aug 2016, 1:38 p.m.
Ellen McDonagh (Genomics England Curator)
Mode of inheritance and phenotypes sourced from OMIM.Created: 11 Jan 2016, 11:55 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Literature
- Other
- Radboud University Medical Center, Nijmegen
- Expert Review
- UKGTN
- Phenotypes
-
- Diabetes mellitus, noninsulin-dependent 125853
- Renal cysts and diabetes syndrome 137920
- {Renal cell carcinoma} 144700
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- Complete
- Panels with this gene
-
- Neonatal cholestasis
- Rare multisystem ciliopathy disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Cholestasis
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- DDG2P
- Fetal anomalies
- Renal tubulopathies
- Familial diabetes
- Neonatal diabetes
- Ductal plate malformation
- Cystic kidney disease
- Multi-organ autoimmune diabetes
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for HNF1B were set to Diabetes mellitus, noninsulin-dependent 125853; Renal cysts and diabetes syndrome 137920; {Renal cell carcinoma} 144700
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for HNF1B were set to Diabetes mellitus, noninsulin-dependent 125853; Renal cysts and diabetes syndrome 137920; {Renal cell carcinoma} 144700
Upload gene information
Sarah Leigh (Genomics England Curator)HNF1B was added to Unexplained kidney failure in young peoplepanel. Sources: Other,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature,UKGTN,Expert Review
clearsources
Sarah Leigh (Genomics England Curator)HNF1BAll sources for gene: HNF1B were removed
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Sarah Leigh (Genomics England Curator)HNF1B was added to Unexplained kidney failure in young peoplepanel. Source: Literature HNF1B was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Green
Added New Source
Sarah Leigh (Genomics England Curator)HNF1B was added to Unexplained kidney failure in young peoplepanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)HNF1B was added to Unexplained kidney failure in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)HNF1B was added to Unexplained kidney failure in young peoplepanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)HNF1B was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing,Other
Created
Ellen McDonagh (Genomics England Curator)HNF1B was created by ellenmcdonagh