This Panel is marked as Internal
Genomic imprinting
Gene: TBX5
TBX5 (T-box 5)
EnsemblGeneIds (GRCh38): ENSG00000089225
EnsemblGeneIds (GRCh37): ENSG00000089225
OMIM: 601620, Gene2Phenotype
TBX5 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000089225
EnsemblGeneIds (GRCh37): ENSG00000089225
OMIM: 601620, Gene2Phenotype
TBX5 is in 10 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: There would appear to be no evidence that this gene is imprinted.Created: 2 Mar 2021, 10:24 a.m. | Last Modified: 2 Mar 2021, 10:24 a.m.
Panel Version: 0.94
Rebecca Foulger (Genomics England curator)
Comment on list classification: TBX5 was originally on this 'Imprinted genes' panel because imprinting was recorded in the MOI on the 'Familial non syndromic congenital heart disease' gene panel for 'Holt-Oram syndrome, 142900'. On closer look, the imprinting mechanism for congenital heart disease is not proven, so have altered the status of TBX5 to 'imprinted status unknown' on the 'Familial non syndromic congenital heart disease' panel, and demoted the rating to 'Grey' on this panel.Created: 22 May 2017, 1:27 p.m.
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
From the Familial non syndromic congenital heart disease gene panel
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Removed
- PanelApp
- Phenotypes
-
- From the Familial non syndromic congenital heart disease gene panel
- Tags
- OMIM
- 601620
- Clinvar variants
- Variants in TBX5
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
2 Mar 2021, Gel status: 0
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: TBX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TBX5.
22 May 2017, Gel status: 0
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been removed from the panel.
4 May 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TBX5 was added to Imprinted Genespanel. Sources: PanelApp
4 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TBX5 was created by ellenmcdonagh