CAKUT
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
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
This gene has been classified as Green List (High Evidence).
Phenotypes for HNF1B were set to Renal cysts and diabetes syndrome; Diabetes mellitus, noninsulin-dependent
Mode of inheritance for HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
HNF1B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Eligibility statement prior genetic testing