Familial diabetes
Gene: HNF1BEnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: HNF1B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Diabetes and renal cysts.Created: 11 Jan 2019, 10:04 a.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from amber to green due to two expert reviews.Created: 7 Jun 2016, 9:29 a.m.
Ellen Thomas (Genomics England)
Routine diagnostic testing for familial diabetes (usually with renal defects but should be included even without known renal disease due to variable expression).Created: 15 Oct 2015, 7:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Renal cysts and diabetes syndrome, 137920
- 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
- Intellectual disability
- Renal tubulopathies
- Familial diabetes
- Neonatal diabetes
- Ductal plate malformation
- Cystic kidney disease
- Multi-organ autoimmune diabetes
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()HNF1B was added to Familial diabetespanel. Sources: UKGTN
Added New Source
GEL ()HNF1B was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen