This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
Gene: HNF1B
HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Renal cysts and diabetes syndrome, MIM#137920
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- CAKUT
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Renal tubulopathies
- Neonatal diabetes
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Familial diabetes
- Multi-organ autoimmune diabetes
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Rare multisystem ciliopathy disorders
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: HNF1B was added gene: HNF1B was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Expert list Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF1B were set to 27234911 Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM#137920