1. Panels
  2. Radial Ray Abnormalities
  3. TBX5
STRs in panel
Prev Next
Regions in panel
Prev Next

Radial Ray Abnormalities

Gene: TBX5

Green List (high evidence)
TBX5 (T-box 5)
EnsemblGeneIds (GRCh38): ENSG00000089225
EnsemblGeneIds (GRCh37): ENSG00000089225
OMIM: 601620, Gene2Phenotype
TBX5 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established Holt-Oram gene, multiple families and animal models.
Created: 1 Jul 2020, 7:17 a.m. | Last Modified: 1 Jul 2020, 7:17 a.m.
Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holt-Oram syndrome, MIM# 142900

Publications

Created: 1 Jul 2020, 7:17 a.m.
Last Modified: 1 Jul 2020, 7:17 a.m.
Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Holt-Oram syndrome, MIM# 142900
OMIM
601620
Clinvar variants
Variants in TBX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx5 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome, MIM# 142900

1 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBX5 were set to

1 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBX5 was added gene: TBX5 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX5 was set to Unknown