Familial non syndromic congenital heart disease
Gene: TBX5EnsemblGeneIds (GRCh38): ENSG00000089225
EnsemblGeneIds (GRCh37): ENSG00000089225
OMIM: 601620, Gene2Phenotype
TBX5 is in 10 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: Updated MOI from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to 'MONOALLELIC autosomal or pseudoautosomal, imprinted status unknown' as evidence for imprinting mechanism is unclear.Created: 18 May 2017, 10:09 a.m.
Alice Gardham (Genomics England)
Known to cause Holt Oram syndrome. Congenital heart disease (ASD and VSD usually) occur in 75% of individuals. Limb abnormalities may be so subtle that they are not clinically detected and so patient may be diagnosed with non syndromic congenital heart diseaseCreated: 28 Nov 2016, 3:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Holt-Oram syndrome, 142900
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Holt-Oram syndrome, 142900
- OMIM
- 601620
- Clinvar variants
- Variants in TBX5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for TBX5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)TBX5 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Created
Alice Gardham (Genomics England)TBX5 was created by agardham