| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dilated Cardiomyopathy v1.22 | TBX20 | Zornitza Stark Phenotypes for gene: TBX20 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021, TBX20-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.21 | TBX20 | Zornitza Stark Publications for gene: TBX20 were set to 26118961; 17668378; 27510170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.20 | TBX20 | Zornitza Stark Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.19 | TBX20 | Zornitza Stark Classified gene: TBX20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.19 | TBX20 | Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.18 | TBX20 | Zornitza Stark reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 35282022; Phenotypes: Dilated cardiomyopathy, MONDO:0005021, TBX20-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.76 | NKX2-5 |
Zornitza Stark gene: NKX2-5 was added gene: NKX2-5 was added to Dilated Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642 Phenotypes for gene: NKX2-5 were set to Dilated cardiomyopathy Review for gene: NKX2-5 was set to RED Added comment: Established gene-disease association with multiple cardiac phenotypes. PMID: 30354339 (2018) - NKX2.5 variant segregated with disease in one large Icelandic family (11 affecteds with the variant, 12 unaffecteds with the variant - some young). Not in GnomAD but in 1/7100 Icelanders (0.0001 pop freq) PMID: 28690296 (2017) - Cohort of sporadic adult onset DCM, 2 unrelated individuals with novel variants (absent in their control cohort and GnomAD), functional analysis show significantly reduced transcriptional activity and downstream impact on targets GATA4 and TBX20. PMID: 25503402 (2015) - Cohort of idiopathic DCM, one family with novel variant (absent in GnomAD), segregated with disease in 3 affected family members (3 meiosis, 2 siblings and a child). Functional analysis revealed significantly reduced transcriptional activity PMID: 27855642 (2016) - Two unrelated families with multiple affecteds. Same residue, alternate changes, both absent in GnomAD. Non-segregation mentioned, reduced penetrance stated explanation. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.67 | TBX20 | Zornitza Stark Marked gene: TBX20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.67 | TBX20 | Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.67 | TBX20 | Zornitza Stark Classified gene: TBX20 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.67 | TBX20 | Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | TBX20 |
Ain Roesley gene: TBX20 was added gene: TBX20 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX20 were set to 26118961; 17668378; 27510170 Phenotypes for gene: TBX20 were set to Dilated cardiomyopathy Penetrance for gene: TBX20 were set to unknown Review for gene: TBX20 was set to AMBER Added comment: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||