Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the circulatory system
Autosomal dominant
15q14
An atrial septal defect is a congenital condition characterised by a hole in the wall between the two upper chambers of the heart. In affected individuals, it leads to secondary complications such as pulmonary artery hypertension and right ventricular hypertrophy. ASD5 is an autosomal dominant condition caused by heterozygous mutations in the ACTC1 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612794.1.01 | Lebanon | Female | Yes | No | Secundum atrial septal defect ; Right b... Secundum atrial septal defect ; Right bundle branch block ; Pulmonary arterial hypertension  | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Megarbane et al. 1999; Augiere et al, 2015 | |
| 612794.1.02 | Lebanon | Male | Yes | No | Secundum atrial septal defect ; Pulmoni... Secundum atrial septal defect ; Pulmonic stenosis ; Left anterior fascicular block ; Right bundle branch block | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Son of 612794.1.01 |
| 612794.1.03 | Lebanon | Male | Yes | No | Secundum atrial septal defect ; Pulmona... Secundum atrial septal defect ; Pulmonary arterial hypertension | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Brother of 612794.1.... |
| 612794.1.04 | Lebanon | Female | Yes | No | Secundum atrial septal defect ; Right b... Secundum atrial septal defect ; Right bundle branch block ; Pulmonary arterial hypertension | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Niece of 612794.1.01 |
| 612794.1.05 | Lebanon | Male | Yes | No | Secundum atrial septal defect ; Pulmona... Secundum atrial septal defect ; Pulmonary arterial hypertension ; Wolff-Parkinson-White syndrome | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Nephew of 612794.1.0... |
| 612794.1.06 | Lebanon | Male | Yes | No | Secundum atrial septal defect ; Left ve... Secundum atrial septal defect ; Left ventricular hypertrophy | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Nephew of 612794.1.0... |
| 612794.1.07 | Lebanon | Female | Yes | No | Secundum atrial septal defect ; Pulmoni... Secundum atrial septal defect ; Pulmonic stenosis ; Hypertelorism ; Diastema ; Cleft lip ; Pectus excavatum | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Great niece of 61279... |
| 612794.1.08 | Lebanon | Female | Yes | No | Secundum atrial septal defect ; Ebstein... Secundum atrial septal defect ; Ebstein anomaly of the tricuspid valve ; Right bundle branch block ; Hypertelorism ; Pectus excavatum | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Great niece of 61279... |
| 612794.1.09 | Lebanon | Male | Yes | No | Secundum atrial septal defect ; Right b... Secundum atrial septal defect ; Right bundle branch block | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Great nephew of 6127... |
| 612794.1.10 | Lebanon | Male | Yes | No | Secundum atrial septal defect ; Left an... Secundum atrial septal defect ; Left anterior fascicular block ; Right bundle branch block ; Atrial fibrillation ; Pulmonary arterial hypertension ; Pectus excavatum | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Brother of 612794.1.... |
| 612794.1.11 | Lebanon | Male | Yes | No | Secundum atrial septal defect ; Sinus b... Secundum atrial septal defect ; Sinus bradycardia ; Right bundle branch block ; Pectus excavatum ; Kyphoscoliosis | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Nephew of 612794.1.0... |
| 612794.1.12 | Lebanon | Female | Yes | No | Perimembranous ventricular septal defect Perimembranous ventricular septal defect | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Great niece of 61279... |
| 612794.1.13 | Lebanon | Male | Yes | No | Secundum atrial septal defect ; Aortic... Secundum atrial septal defect ; Aortic valve stenosis ; Pulmonary arterial hypertension ; Hypertelorism ; Pectus excavatum | NM_005159.4:c.251T>C | Heterozygous | Autosomal, Dominant | Augiere et al, 2015 | Great nephew of 6127... |