Cholestasis
Gene: HNF1BEnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
Comment on list classification: Comment on list classification: New gene added by Zornitiza Stark. Based on the available evidence there is enough evidence to support a gene-disease association. Therefore, this gene is rated Amber and will be promoted to Green in the next review.
This gene is also Green on the Neonatal Cholestasis panel (v1.4)Created: 28 Oct 2020, 2:58 p.m. | Last Modified: 28 Oct 2020, 2:58 p.m.
Panel Version: 1.42
Zornitza Stark (Australian Genomics)
Multiple case reports of cholestasis in individuals with HNF1B-related disease.
Sources: Expert listCreated: 9 Aug 2020, 3:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal cysts and diabetes syndrome, MIM# 137920
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Renal cysts and diabetes syndrome, 137920
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- Publications
- 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
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: HNF1B.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to HNF1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: hnf1b has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: HNF1B.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: HNF1B were changed from Renal cysts and diabetes syndrome, MIM# 137920 to Renal cysts and diabetes syndrome, 137920
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: HNF1B was added gene: HNF1B was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF1B were set to 28324003; 29727438; 30791938; 25741167 Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920 Review for gene: HNF1B was set to GREEN