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  2. Congenital Heart Defect
  3. TBX2
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Congenital Heart Defect

Gene: TBX2

Amber List (moderate evidence)
TBX2 (T-box 2)
EnsemblGeneIds (GRCh38): ENSG00000121068
EnsemblGeneIds (GRCh37): ENSG00000121068
OMIM: 600747, Gene2Phenotype
TBX2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported; congenital heart disease is part of the phenotype.
Sources: Expert list
Created: 17 Jan 2020, 2 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223

Publications

Created: 17 Jan 2020, 2 a.m.

Panel version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223
OMIM
600747
Clinvar variants
Variants in TBX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx2 has been classified as Amber List (Moderate Evidence).

17 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx2 has been classified as Amber List (Moderate Evidence).

17 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBX2 was added gene: TBX2 was added to Congenital Heart Defect. Sources: Expert list Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX2 were set to 29726930 Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223 Review for gene: TBX2 was set to AMBER