Unexplained kidney failure in young people
Gene: TBX18
TBX18 (T-box 18)
EnsemblGeneIds (GRCh38): ENSG00000112837
EnsemblGeneIds (GRCh37): ENSG00000112837
OMIM: 604613, Gene2Phenotype
TBX18 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000112837
EnsemblGeneIds (GRCh37): ENSG00000112837
OMIM: 604613, Gene2Phenotype
TBX18 is in 6 panels
1 review
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Congenital anomalies of kidney and urinary tract 2 143400
- OMIM
- 604613
- Clinvar variants
- Variants in TBX18
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
30 Jan 2019, Gel status: 3
Set Phenotypes
Eleanor Williams (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 143400
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
5 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Jun 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TBX18 were set to Congenital anomalies of kidney and urinary tract 2 143400
18 May 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)TBX18 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review Green
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)TBX18 was created by sleigh