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Paediatric disorders - additional genes

Gene: TBX18

Green List (high evidence)
TBX18 (T-box 18)
EnsemblGeneIds (GRCh38): ENSG00000112837
EnsemblGeneIds (GRCh37): ENSG00000112837
OMIM: 604613, Gene2Phenotype
TBX18 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.
Panel Version: 1.96
Created: 10 Mar 2022, 3:53 p.m.
Last Modified: 10 Mar 2022, 3:53 p.m.
Panel version: 1.96

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Amber awaiting GLH review. Three unrelated CAKUT cases in PMID:26235987 (2015) but as Helen Brittain notes, isolated CAKUT phenotype is less relevant for the Paediatric disorders panel.
Created: 14 May 2020, 8:54 p.m. | Last Modified: 14 May 2020, 8:54 p.m.
Panel Version: 1.50
Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.
Created: 12 May 2020, 4:19 p.m. | Last Modified: 12 May 2020, 4:19 p.m.
Panel Version: 1.4
Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106. Note that TBX18 is on V14.137 Paediatric panel already but with Amber rating.
Created: 12 May 2020, 3:57 p.m. | Last Modified: 12 May 2020, 3:57 p.m.
Panel Version: 1.4
Created: 12 May 2020, 3:57 p.m.
Last Modified: 12 May 2020, 3:57 p.m.
Panel version: 1.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CAKUT
  • Congenital anomalies of kidney and urinary tract 2, 143400
OMIM
604613
Clinvar variants
Variants in TBX18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: TBX18.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to TBX18. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbx18 has been classified as Amber List (Moderate Evidence).

14 May 2020, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TBX18 were set to

14 May 2020, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TBX18 were changed from CAKUT to CAKUT; Congenital anomalies of kidney and urinary tract 2, 143400

12 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbx18 has been classified as Amber List (Moderate Evidence).

12 May 2020, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag for-review tag was added to gene: TBX18.

12 May 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TBX18 was added gene: TBX18 was added to Paediatric disorders - additional genes. Sources: Other,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 CAKUT