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  2. Congenital Heart Defect
  3. TBX3
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Congenital Heart Defect

Gene: TBX3

Green List (high evidence)
TBX3 (T-box 3)
EnsemblGeneIds (GRCh38): ENSG00000135111
EnsemblGeneIds (GRCh37): ENSG00000135111
OMIM: 601621, Gene2Phenotype
TBX3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

VSD and WPW described.
Sources: Expert list
Created: 17 Jan 2020, 2:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ulnar-mammary syndrome, MIM# 181450

Created: 17 Jan 2020, 2:03 a.m.

Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ulnar-mammary syndrome, MIM# 181450
OMIM
601621
Clinvar variants
Variants in TBX3
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx3 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx3 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBX3 was added gene: TBX3 was added to Congenital Heart Defect. Sources: Expert list Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TBX3 were set to Ulnar-mammary syndrome, MIM# 181450 Review for gene: TBX3 was set to GREEN