Renal and urinary tract disorders
Gene: HNF1B
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal cysts and diabetes syndrome
Renal Cysts And Diabetes Syndrome
CAKUTCreated: 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
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 1:38 p.m.
Comment on phenotypes: Also associated with Diabetes mellitus, noninsulin-dependent 125853 and {Renal cell carcinoma} 144700Created: 4 Aug 2016, 1:38 p.m.
Comment on list classification: Important cause of cystic kidney disease.Created: 10 May 2016, 9:46 a.m.
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
Comment on list classification: Promoted from red to green due to agreement from two reviewers.Created: 30 Mar 2016, 9:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh: Comment on list classification
Added phenotypes Diabetes mellitus, noninsulin-dependent 125853; {Renal cell carcinoma} 144700; Renal cysts and diabetes syndrome 137920 for gene: HNF1B
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
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