Unexplained young onset end-stage renal disease
Gene: TBX18
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT; Renal cysts and diabetes; glomerulocystic kidney disease; hypomagneseamia;
Publications
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 5 Aug 2016, 11:55 a.m.
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
gene: TBX18 was added gene: TBX18 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX18 were set to Congenital anomalies of kidney and urinary tract 2 143400