This Panel is marked as Deleted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_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
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Cholestasis
- CAKUT
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal tubulopathies
- Neonatal diabetes
- Monogenic diabetes
- 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
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: HNF1B was added gene: HNF1B was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HNF1B was set to Unknown