From: EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
ID | Gene | Variant class | Blood VAF | pLI | Episcore | HeartExp | Age (year) | Clinical phenotype | PCGC de novo LoF/Dmis variants in mosaic gene | |
---|---|---|---|---|---|---|---|---|---|---|
Cardiac abnormalities | Extracardiac abnormalities | |||||||||
1-00761 | FBN1 | Dmis | 0.24 | 1.00 | 98 | 93 | 1–5 | Mitral stenosis | Dysmorphic features, subglottic stenosis, hypoplasic left mainstem bronchus, short stature | 3 |
1-07004 | TET3 | Dmis | 0.16 | 1.00 | 7 | 87 | 5–18 | Subaortic stenosis | None | 0 |
1-05662 | SETD2 | LoF | 0.13 | 1.00 | 99 | 85 | < 1 | Aortic coarctation, mitral valve hypoplasia | None | 0 |
1-00344 | UBR5 | splice | 0.27 | 1.00 | 95 | 90 | 5–18 | D-transposition of the great arteries, VSD, valvar and subvalvar pulmonary stenosis | None | 0 |
1-03512 | RFX3 | LoF | 0.09 | 1.00 | 100 | 46 | < 1 | Tetralogy of Fallot with pulmonary stenosis | None | 0 |
1-06216 | ITSN1 | Dmis | 0.21 | 1.00 | 98 | 86 | < 1 | ASD | Plagiocephaly, rib anomaly, single kidney, dysmorphic facial features | 0 |
1-00363 | QSER1 | Dmis | 0.06 | 1.00 | 94 | 79 | 1–5 | Tetralogy of Fallot with pulmonary stenosis, VSD | inguinal hernia | 0 |
1-13185 | PKD1 | Dmis | 0.10 | 1.00 | 87 | 84 | < 1 | VSD, partially anomalous pulmonary venous return | Hemangioma | 1 |
1-00192 | GLYR1 | Dmis | 0.22 | 0.99 | 89 | 93 | < 1 | ASD, VSD, interrupted aortic arch, hypoplastic tricuspid valve, BAV | None | 0 |
1-04046 | FZD5 | Dmis | 0.09 | 0.99 | 89 | 48 | < 1 | Tetralogy of Fallot with pulmonary stenosis, VSD | None | 0 |
1-06649 | NOVA2 | Dmis | 0.15 | 0.95 | 75 | 56 | < 1 | Tetralogy of Fallot with pulmonary stenosis | None | 0 |
1-05095 | ISL1 | LoF | 0.07 | 0.90 | 97 | 25 | 1–5 | ASD | None | 0 |
1-06677 | KCTD10 | Dmis | 0.16 | 0.84 | 75 | 91 | 5–18 | Aortic coarctation, pulmonary valve stenosis | Dysmorphic facial features, hydrocephalus, pyloric stenosis, single kidney, imperforate/atretic anus | 0 |
1-05447 | HNRNPAB | Dmis | 0.09 | 0.76 | 72 | 99 | 5–18 | ASD, BAV, aortic coarctation | None | 0 |
1-00021 | QKI | LoF | 0.13 | 0.76 | 94 | 97 | < 1 | Doublet outlet right ventricle, pulmonary stenosis, VSD | None | 0 |
1-11871 | FHOD3 | Dmis | 0.18 | 0.05 | 91 | 92 | < 1 | Tetralogy of Fallot with pulmonary atresia | Hypocalcemia, thrombocytopenia, lymphopenia | 0 |
1-01458 | HK2 | Dmis | 0.27 | 0.04 | 89 | 90 | < 1 | Hypoplastic left heart with aortic and mitral atresia, aortic coarctation | None | 1 |
1-00669 | PRKD3 | splice | 0.19 | 0.02 | 77 | 82 | < 1 | D-transposition of the great arteries, conal VSD, bilateral conus, interrupted aortic arch | None | 0 |
1-00524 | RNF20 | LoF | 0.10 | 0.00 | 55 | 83 | 18–25 | Left-dominant complete atrioventricular canal | Heterotaxy with situs inversus totalis, asplenia, duodenal atresia | 0 |
1-01851 | SUCLA2 | LoF | 0.11 | 0.00 | 72 | 89 | 5–18 | Balanced complete atrioventricular canal, aortic coarctation | None | 0 |
1-03885 | LZTR1 | Dmis | 0.20 | 0.00 | 31 | 84 | 5–18 | Abnormal pulmonary vein draining into the right atrium | Left-sided/midline liver, asplenia, maltrotation | 2 |
1-05011 | KCTD20 | Dmis | 0.26 | 0.00 | 76 | 77 | 18–25 | Transposition of the great arteries, tricuspid and pulmonary valve atresia | Left-sided/midline liver | 1 |
1-00018 | Figure 4 | Dmis | 0.19 | 0.00 | 49 | 70 | 5–18 | BAV, mitral atresia, aortic coarctation, VSD, total anomalous pulmonary venous return | Nephritis | 1 |
1-05661 | SMAD9 | Dmis | 0.06 | 0.00 | 84 | 39 | 5–18 | Common atrioventricular canal | None | 0 |
1-09869 | PIK3C2G | LoF | 0.07* | 0.00 | 73 | 28 | 5–18 | Common atrioventricular canal, aortic stenosis, aortic arch hypoplasia, VSDs | Dysmorphic facial features, low-set ears, campomelic dysplasia | 1 |