Unexplained young onset end-stage renal disease - additional genes
Gene: TBX18EnsemblGeneIds (GRCh38): ENSG00000112837
EnsemblGeneIds (GRCh37): ENSG00000112837
OMIM: 604613, Gene2Phenotype
TBX18 is in 6 panels
7 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Helen Stuart (University of Manchester)
John Sayer (Newcastle University)
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.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 5 Aug 2016, 11:55 a.m.
Ellen McDonagh (Genomics England Curator)
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.
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital anomalies of kidney and urinary tract 2, OMIM:143400
- OMIM
- 604613
- Clinvar variants
- Variants in TBX18
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TBX18 were changed from Congenital anomalies of kidney and urinary tract 2 143400 to Congenital anomalies of kidney and urinary tract 2, OMIM:143400
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: TBX18 were set to
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes Congenital anomalies of kidney and urinary tract 2 143400 for gene: TBX18
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: TBX18 was added gene: TBX18 was added to Unexplained young onset end-stage renal disease - additional genes. 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