CAKUT
Gene: TBX18
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT; Renal cysts and diabetes; glomerulocystic kidney disease; hypomagneseamia;
Publications
Comment on list classification: Promoted to green due to additional evidence provided by a second reviewer - PMID:26235987 reports 3 different loss-of-function variants in 3 unrelated families. It is a probable DD gene for CAKUT.Created: 22 Apr 2016, 12:51 p.m.
One publication in 2015 showing mutations in three unrelated families with a variety of renal malformations (hydronephrosis, vescicoureteric reflux and small kidneys). In mice, biallelic null mutations cause major ureter malformations.Created: 22 Apr 2016, 11:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX18 were changed from to CAKUT; Renal cysts and diabetes; glomerulocystic kidney disease; hypomagneseamia; Congenital anomalies of kidney and urinary tract 2, 143400
Publications for gene: TBX18 were set to
Mode of inheritance for TBX18 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
TBX18 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list