CAKUT

Gene: TBX18

Red List (low evidence)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

• Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH,Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM,Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A,Hildebrandt F. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Am J Hum Genet. 2015 Aug 6
• 97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. PubMed PMID: 26235987
• PubMed Central PMCID: PMC4862256.

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.

Green List (high evidence)

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