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Renal and urinary tract disorders

Gene: HNF1B

Green List (high evidence)
HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels

8 reviews

Miranda Durkie (Genetics)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Cystic kidney disease panel version 0

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal cysts and diabetes syndrome

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

John Sayer (Newcastle University)

Green List (high evidence)

Renal Cysts And Diabetes Syndrome
CAKUT
Created: 6 Dec 2016, 6:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAKUT; Renal cysts and diabetes; glomerulocystic kidney disease; hypomagneseamia;

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Dec 2016, 6:27 p.m.

Panel version: Imported from CAKUT panel version 1.1

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 4 Aug 2016, 1:38 p.m.
Comment on phenotypes: Also associated with Diabetes mellitus, noninsulin-dependent 125853 and {Renal cell carcinoma} 144700
Created: 4 Aug 2016, 1:38 p.m.
Created: 4 Aug 2016, 1:38 p.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.202

Ellen Thomas (Genomics England Curator)

Comment on list classification: Important cause of cystic kidney disease.
Created: 10 May 2016, 9:46 a.m.
Created: 10 May 2016, 9:46 a.m.

Panel version: Imported from Cystic kidney disease panel version 0.5

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Green List (high evidence)

Currently the commonest genetically proven cause of human kidney malformations. Typically causes multicystic dysplastic kidneys or a polycystic-like disease. Testing available on UK Genetic Testing Network.
Created: 22 Apr 2016, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Apr 2016, 11:33 a.m.

Panel version: Imported from CAKUT panel version 0.84

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to agreement from two reviewers.
Created: 30 Mar 2016, 9:15 a.m.
Created: 30 Mar 2016, 9:15 a.m.

Panel version: Imported from CAKUT panel version 0.53

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Feb 2016, 10:49 p.m.

Panel version: Imported from CAKUT panel version 0.8

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Diabetes mellitus, noninsulin-dependent 125853; {Renal cell carcinoma} 144700; Renal cysts and diabetes syndrome 137920 for gene: HNF1B

20 Dec 2018, Gel status: 4

Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene HNF1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diabetes mellitus, noninsulin-dependent; Renal cysts and diabetes syndrome for gene: HNF1B

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HNF1B was added gene: HNF1B was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNF1B were set to 12012276; PMID: 11562418; 15085338 Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome