| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Spontaneous coronary artery dissection v0.53 | FLNA | Kunal Verma reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: None; Publications: 34863227; Phenotypes: Spontaneous coronary artery dissection; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.50 | FLNA | Zornitza Stark reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: periventricular heterotopia 1 MIM#300049; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.34 | FLNA |
Ain Roesley changed review comment from: PMID: 32897753 1x individual with left anterior descending coronary artery Sources: Literature ; to: borderline red/amber but amber so as to not miss a diagnosis PMID: 32897753 1x individual with left anterior descending coronary artery Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.34 | FLNA | Ain Roesley Phenotypes for gene: FLNA were changed from periventricular heterotopia 1 MIM#300049 to Spontaneous coronary artery dissection | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.33 | FLNA | Ain Roesley Classified gene: FLNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.33 | FLNA | Ain Roesley Gene: flna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.32 | FLNA | Ain Roesley edited their review of gene: FLNA: Changed publications: 32897753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.32 | FLNA |
Ain Roesley changed review comment from: Large review of 114 patients with loss-of-function FLNA mutations with periventricular nodular heterotopia (PVNH), found that most subjects had a cardiac anomaly or vascular abnormality (64.9%). Thoracic aortic aneurysms or dilatation (TAA) were found in 18.4%, and were associated with other structural cardiac malformations in 57.1% of patients (Chen et al. 2018; PMID: 29334594). PMID: 32897753 1x individual with left anterior descending coronary artery Sources: Literature ; to: PMID: 32897753 1x individual with left anterior descending coronary artery Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.32 | FLNA | Ain Roesley edited their review of gene: FLNA: Changed rating: AMBER; Changed publications: 29334594, 32897753; Changed phenotypes: periventricular heterotopia 1 MIM#300049 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.32 | FLNA |
Ain Roesley changed review comment from: Large review of 114 patients with loss-of-function FLNA mutations with periventricular nodular heterotopia (PVNH), found that most subjects had a cardiac anomaly or vascular abnormality (64.9%). Thoracic aortic aneurysms or dilatation (TAA) were found in 18.4%, and were associated with other structural cardiac malformations in 57.1% of patients (Chen et al. 2018; PMID: 29334594). Sources: Literature; to: Large review of 114 patients with loss-of-function FLNA mutations with periventricular nodular heterotopia (PVNH), found that most subjects had a cardiac anomaly or vascular abnormality (64.9%). Thoracic aortic aneurysms or dilatation (TAA) were found in 18.4%, and were associated with other structural cardiac malformations in 57.1% of patients (Chen et al. 2018; PMID: 29334594). PMID: 32897753 1x individual with left anterior descending coronary artery Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.20 | FLNA | Ain Roesley Marked gene: FLNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.20 | FLNA | Ain Roesley Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.20 | FLNA | Ain Roesley Classified gene: FLNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.20 | FLNA | Ain Roesley Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.19 | FLNA |
Ain Roesley gene: FLNA was added gene: FLNA was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 29334594 Phenotypes for gene: FLNA were set to periventricular heterotopia 1 MIM#300049 Review for gene: FLNA was set to GREEN gene: FLNA was marked as current diagnostic Added comment: Large review of 114 patients with loss-of-function FLNA mutations with periventricular nodular heterotopia (PVNH), found that most subjects had a cardiac anomaly or vascular abnormality (64.9%). Thoracic aortic aneurysms or dilatation (TAA) were found in 18.4%, and were associated with other structural cardiac malformations in 57.1% of patients (Chen et al. 2018; PMID: 29334594). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||