Cardiomyopathy_Paediatric
Gene: TBX20EnsemblGeneIds (GRCh38): ENSG00000164532
EnsemblGeneIds (GRCh37): ENSG00000164532
OMIM: 606061, Gene2Phenotype
TBX20 is in 7 panels
2 reviews
Ivan Macciocca (Victorian Clinical Genetics Services)
internal cases referred to below are now published. PMID: 37657916Created: 4 Sep 2023, 3:50 a.m. | Last Modified: 4 Sep 2023, 3:50 a.m.
Panel Version: 0.167
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple reports in literature, including of children. Also aware of additional four families identified internally, publication pending.
Sources: LiteratureCreated: 4 Aug 2023, 1:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated cardiomyopathy, MONDO:0005021, TBX20-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Dilated cardiomyopathy, MONDO:0005021, TBX20-related
- OMIM
- 606061
- Clinvar variants
- Variants in TBX20
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TBX20 were set to 26118961; 17668378; 27510170; 35282022
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbx20 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbx20 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: TBX20 was added gene: TBX20 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX20 were set to 26118961; 17668378; 27510170; 35282022 Phenotypes for gene: TBX20 were set to Dilated cardiomyopathy, MONDO:0005021, TBX20-related Review for gene: TBX20 was set to GREEN