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Fetal anomalies

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)

Although ulnar abnormalities are prominent, the radius and humerus can also be affected.

Well established gene-disease association.
Created: 24 Apr 2021, 4:43 a.m. | Last Modified: 24 Apr 2021, 4:43 a.m.
Panel Version: 0.146

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ulnar-mammary syndrome, MIM# 181450; MONDO:0008411

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ulnar-mammary syndrome, MIM# 181450
  • MONDO:0008411
OMIM
601621
Clinvar variants
Variants in TBX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, 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).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBX3 were changed from ULNAR-MAMMARY SYNDROME to Ulnar-mammary syndrome, MIM# 181450; MONDO:0008411

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBX3 were set to

23 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME