Multi-organ autoimmune diabetes
Gene: HNF1BEnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:05 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Removed
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Renal cysts and diabetes syndrome, 137920
- Diabetes mellitus, noninsulin-dependent, 125853
- {Renal cell carcinoma}, 144700
- Neonatal Diabetes
- Maturity-Onset Diabetes Of The Young
- Monogenic Diabetes
- Tags
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- Complete
- 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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: HNF1B.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HNF1B was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)HNF1B was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN