Dilated Cardiomyopathy

Gene: TBX20

Green List (high evidence)

Additional 4 families identified internally, publication pending.

Also note additional reported of paediatric LVNC, PMID 35282022.

Created: 4 Aug 2023, 1:22 a.m. | Last Modified: 4 Aug 2023, 1:22 a.m.

Panel Version: 1.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dilated cardiomyopathy, MONDO:0005021, TBX20-related

Publications

• 35282022

I don't know

PMID: 26118961
- 1x missense (p.(Phe256Ile)) (absent in gnomAD) in a family with 4 affecteds across 2 generations (total of 3 meiosis)

PMID: 17668378;
DCM in 2 individuals in a family with a nonsense variant (p.(Gln195*)) (absent in gnomAD)
- 1 also had mitral valve disease
- the other also had atrial septal defect and pulmonary hypertension

PMID: 27510170;
- 1x in a DCM patient (p.(Glu143*) (absent in gnomAD)
- present in 3 other affected family members across 3 generations
- proband's sister and daughter also presented with congenital atrial septal defect (ASD)
Sources: Literature

Created: 5 Aug 2020, 4:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dilated cardiomyopathy

Publications

• 26118961
• 17668378
• 27510170