Rare multisystem ciliopathy disorders
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
1 review
Alice Gardham (Genomics England)
Comment on list classification: Reasonable to include as a differential diagnosis of ciliopathyCreated: 25 Jan 2017, 1:03 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Expert list
- Phenotypes
-
- Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- CAKUT
- Tubulointerstitial kidney disease
- Monogenic diabetes
- Unexplained kidney failure in young people
- Renal tubulopathies
- Familial diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Neonatal diabetes
- Fetal anomalies
- Ductal plate malformation
- Multi-organ autoimmune diabetes
- Cystic kidney disease
- Renal ciliopathies
- DDG2P
- Neonatal cholestasis
- Rare multisystem ciliopathy disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
26 Jan 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
25 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
25 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)HNF1B was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
25 Nov 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene HNF1B were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
5 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)HNF1B was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HNF1B was created by ellenmcdonagh