Dilated Cardiomyopathy
Gene: TBX5EnsemblGeneIds (GRCh38): ENSG00000089225
EnsemblGeneIds (GRCh37): ENSG00000089225
OMIM: 601620, Gene2Phenotype
TBX5 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
8 individuals from 4 unrelated families reported in PMID 32449309, relatively mild skeletal manifestations of HOS and DCM a prominent feature in several. Note previous reports, and supportive mouse model.
Sources: LiteratureCreated: 5 Oct 2020, 4:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Holt-Oram syndrome, MIM# 142900
- Dilated cardiomyopathy
- OMIM
- 601620
- Clinvar variants
- Variants in TBX5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbx5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbx5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TBX5 was added gene: TBX5 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX5 were set to 32449309; 32236096; 25963046; 25725155 Phenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy Review for gene: TBX5 was set to GREEN