Kidneyome_SuperPanel_KidGen_VCGS
Gene: HNF1BEnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- KidGen_Cystic v38.1.0
- Victorian Clinical Genetics Services
- Expert Review Green
- KidGen_Tubulointerstitial v38.1.0
- Phenotypes
-
- Renal cysts and diabetes syndrome, MIM#137920
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- Publications
- Panels with this gene
-
- CAKUT
- Neonatal diabetes
- Tubulointerstitial kidney disease
- Renal tubulopathies
- Cystic kidney disease
- Renal ciliopathies
- Intellectual disability
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Familial diabetes
- DDG2P
- Rare multisystem ciliopathy disorders
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Cholestasis
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Renal cysts and diabetes syndrome, MIM#137920 for gene: HNF1B
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source Expert list was added to HNF1B. Mode of inheritance for gene HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Renal cysts and diabetes syndrome, MIM#137920 for gene: HNF1B Publications for gene HNF1B were changed from to 27234911
Added New Source
Ivone Leong (Genomics England Curator)Source KidGen_Cystic v38.1.0 was added to HNF1B.
Added New Source
Ivone Leong (Genomics England Curator)Source Victorian Clinical Genetics Services was added to HNF1B.
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: HNF1B was added gene: HNF1B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: HNF1B was set to Unknown