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Currarino triad

Gene: T

Red List (low evidence)
T (T brachyury transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000164458
EnsemblGeneIds (GRCh37): ENSG00000164458
OMIM: 601397, Gene2Phenotype
T is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is TBXT
Created: 21 Mar 2018, 1:11 p.m.
Created: 21 Mar 2018, 1:11 p.m.

Panel version: 1.1

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sacral agenesis with vertebral anomalies,615709

Publications

Created: 3 Nov 2016, 11:48 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sacral agenesis with vertebral anomalies,615709
Tags
new-gene-name
OMIM
601397
Clinvar variants
Variants in T
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Nov 2016, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

3 November 2016: Panel review was assessed and panel was revised according to expert review and additional curation.

24 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

T was created by rfoulger

24 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

T was added to Currarino triadpanel. Sources: Radboud University Medical Center, Nijmegen