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Blueprint Genetics Congenital Structural Heart Disease Panel

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Blueprint Genetics Congenital Structural Heart Disease Panel Congenital Structural Heart Disease Panel Test code: CA1501 Is a 114 gene panel that includes assessment of non-coding variants. Is ideal for patients with congenital heart disease, particularly those with features of hereditary disorders. Is not ideal for patients suspected to have a ciliopathy or a rasopathy. For those patients, please consider our Primary Ciliary Dyskinesia Panel and our Noonan Syndrome Panel, respectively. About Congenital Structural Heart Disease There are many types of congenital heart disease (CHD) ranging from simple asymptomatic defects to complex defects with severe, life-threatening symptoms. CHDs are the most common type of birth defect and affect at least 8 out of every 1,000 newborns. Annually, more than 35,000 babies in the United States are born with CHDs. Many of these CHDs are simple conditions and need no treatment or are easily repaired. Some babies are born with complex CHD requiring special medical care. The diagnosis and treatment of complex CHDs has greatly improved over the past few decades. As a result, almost all children who have complex heart defects survive to adulthood and can live active, productive lives. However, many patients who have complex CHDs continue to need special heart care throughout their lives. In the United States, more than 1 million adults are living with congenital heart disease. Availability 4 weeks Gene Set Description Genes in the Congenital Structural Heart Disease Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ABL1 Congenital heart defects and skeletal malformations syndrome AD 30 5 (CHDSKM) ACTA2 Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic AD 20 76 smooth muscle dysfunction syndrome ACTB* Baraitser-Winter syndrome AD 55 60 ACTC1 Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), AD 23 63 Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM) ACTG1* Deafness, Baraitser-Winter syndrome AD 27 47 ACVR1 Fibrodysplasia ossificans progressiva AD 14 19 ACVR2B Heterotaxy, visceral, 4, autosomal AD 1 2 ADAMTS10 Weill-Marchesani syndrome AR 8 14 ADAMTS17 Weill-Marchesani-like syndrome AR 6 7 AFF4 Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary AD 3 3 involvement, Short stature, and skeletal dysplasia (CHOPS syndrome) https://blueprintgenetics.com/ AMMECR1 Midface hypoplasia, hearing impairment, elliptocytosis, and XL 4 5 nephrocalcinosis ARHGAP31 Adams-Oliver syndrome AD 3 6 ARID1A Coffin-Siris syndrome, Mental retardation AD 27 35 ARID1B Coffin-Siris syndrome, Mental retardation AD 153 185 B3GAT3* Multiple joint dislocations, short stature, craniofacial dysmorphism, and AR 6 13 congenital heart defects BCOR Microphthalmia, syndromic, Oculofaciocardiodental syndrome XL 40 53 BMPR2 Pulmonary hypertension, primary, Pulmonary venoocclusive disease AD 391 572 BRAF* LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndrome AD 134 65 C12ORF57 Corpus callosum hypoplasia, recessive, Temtamy syndrome AR 7 6 CBL Noonan syndrome-like disorder with or without juvenile myelomonocytic AD 24 43 leukemia CDK13 Congenital heart defects, dysmorphic facial features, and intellectual AD 13 20 developmental disorder CDK9 AR 1 CFAP53 Heterotaxy, visceral, 6, autosomal recessive AR 4 4 CHD4 Sifrim-Hitz-Weiss syndrome AD 14 21 CHD7 Isolated gonadotropin-releasing hormone deficiency, CHARGE syndrome AD 276 860 CHRM2 Dilated cardiomyopathy (DCM) AD/AR 1 CREBBP Rubinstein-Taybi syndrome AD 175 362 CRELD1 Atrioventricular septal defect, partial, with or without heterotaxy AD 2 16 CTC1 Cerebroretinal microangiopathy with calcifications and cysts AR 21 33 DHCR7 Smith-Lemli-Opitz syndrome AR 88 217 DLL4 Adams-Oliver syndrome AD 13 14 DOCK6 Adams-Oliver syndrome AR 21 21 EFTUD2 Mandibulofacial dysostosis with microcephaly, Esophageal atresia, AD 45 99 syndromic EHMT1 Kleefstra syndrome AD 86 89 EIF2AK4 Pulmonary venoocclusive disease AR 27 84 ELN Cutis laxa, Supravalvular aortic stenosis AD 78 113 ENG Juvenile polyposis syndrome, Hereditary hemorrhagic telangiectasia AD 158 491 EOGT Adams-Oliver syndrome AR 8 5 https://blueprintgenetics.com/ EP300 Rubinstein-Taybi syndrome AD 63 101 EVC Weyers acrofacial dysostosis, Ellis-van Creveld syndrome AD/AR 58 83 EVC2 Ellis-van Creveld syndrome, Weyers acrodental dysostosis AD/AR 78 75 FLNA Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, XL 133 257 Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects FOXC1 Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly AD 46 135 FOXF1 Alveolar capillary dysplasia with misalignment of pulmonary veins AD 10 102 FOXH1 Congenital heart malformations, Holoprosencephaly AD 33 FOXP1 Mental retardation with language impairment and autistic features, AD 48 76 Congenital heart malformations GATA4 Tetralogy of Fallot, Atrioventricular septal defect, Testicular anomalies AD 37 140 with or without congenital heart disease, Ventricular septal defect, Atrial septal defect GATA5 Familial atrial fibrillation, Tetralogy of Fallot, Single ventricular septal AD 5 32 defect GATA6 Heart defects, congenital, and other congenital anomalies, Atrial septal AD 16 82 defect 9, atrioventricular septal defect 5, Persistent truncus arteriosus, Tetralogy of Fallot GDF1 Transposition of the great arteries, dextro-looped 3, Double-outlet right AR 11 15 ventricle GJA1* Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe AD/AR 31 107 type, Syndactyly type 3 GJA5 Progressive familial heart block, Atrial standstill, digenic, Atrial fibrillation AD/Digenic 8 34 GPC3 Simpson-Golabi-Behmel syndrome XL 33 75 HAND1 Congenital heart defects, Dilated cardiomyopathy AD 9 HAND2 Dilated cardiomyopathy (DCM), Congenital heart malformations AD 2 5 HDAC8 Cornelia de Lange syndrome XL 41 50 HNRNPK Au-Kline syndrome AD 14 10 HOXA1 Athabaskan brainstem dysgenesis syndrome, Bosley-Salih-Alorainy AR 4 7 syndrome HRAS Costello syndrome, Congenital myopathy with excess of muscle spindles AD 43 31 JAG1 Alagille syndrome AD 131 610 KDM6A Kabuki syndrome XL 40 69 KMT2D Kabuki syndrome AD 350 670 KRAS* Noonan syndrome, Cardiofaciocutaneous syndrome AD 63 35 https://blueprintgenetics.com/ KYNU Hydroxykynureninuria, Vertebral, cardiac, renal, and limb defects AR 4 7 syndrome 2 LEFTY2* Left-right axis malformations AD 1 3 MED12 Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG XL 29 30 syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndrome MED13L Transposition of the great arteries, dextro-looped 1, Mental retardation AD/AR 92 78 and distinctive facial features with or without cardiac defects, Congenital heart defects and intellectual disability, Intellectual disability, autosomal recessive MEIS2 Cleft palate, cardiac defects, and mental retardation (CPCMR) AD 10 18 MMP21 Heterotaxy, visceral, 7 AR 4 18 MYCN Feingold syndrome AD 27 41 MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial AR 2 4 dysmorphism MYRF Congenital heart malformations, Congenital abnormalities of the kidney AD 1 1 and urinary tract NAA15 Congenital heart malformations AD 10 32 NF1* Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan AD 1157 2901 syndrome NIPBL Cornelia de Lange syndrome AD 311 425 NKX2-5 Conotruncal heart malformations, Hypothyroidism, congenital AD 45 108 nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of Fallot NKX2-6 Persistent truncus arteriosus, Conotruncal heart malformations AD/AR 2 9 NODAL Heterotaxy, visceral AD 4 15 NONO Mental retardation, X-linked, syndrome 34, Left ventricular non- XL 10 4 compaction cardiomyopathy (LVNC) NOTCH1 Aortic valve disease, Adams-Oliver syndrome AD 56 96 NOTCH2* Alagille syndrome, Hajdu-Cheney syndrome AD 37 70 NR2F2 Congenital heart defects, multiple types, 4 AD 12 16 NSD1 Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome AD 329 517 PITX2 Axenfeld-Rieger syndrome, Ring dermoid of cornea, AD 23 101 Iridogoniodysgenesis, Peters anomaly PKD1L1 Heterotaxy, visceral, 8, autosomal AR 2 6 PPP1CB# Noonan syndrome-like disorder with loose anagen hair 2 AD 8 11 PRDM6 Patent ductus arteriosus 3, Congenital heart malformations AD 4 3 PRKD1 Congenital heart defects and ectodermal dysplasia AD 2 7 https://blueprintgenetics.com/ PTPN11 Noonan syndrome, Metachondromatosis AD 135 140 PUF60 Short stature, Microcephaly AD 24 30 RAB23# Carpenter syndrome 1 AR 5 15 RAF1 LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM) AD 45 53 RBM10 TARP syndrome XL 12 10 RERE Neurodevelopmental disorder with or without anomalies of the brain, eye, AD 24 24 or heart (NEDBEH) RIT1 Noonan syndrome AD 23 26 SALL4 Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndrome AD 21 56 SMARCB1 Schwannomatosis, Rhabdoid tumor predisposition syndrome, Coffin-Siris AD 36 118 syndrome 3 SMC1A Cornelia de Lange syndrome XL 73 87 SMC3 Cornelia de Lange syndrome AD 25 21 SOS1 Noonan syndrome AD 44 71 SOS2 Noonan syndrome 9 AD 4 6 STAG2 Congenital heart defects, dysmorphic facial features, and intellectual XL 6 14 developmental disorder STRA6 Microphthalmia, syndromic, Microphthalmia, isolated, with coloboma AR 22 33 TAB2 Congenital heart defects, multiple types, 2 AD 13 31 TBX1 Conotruncal anomaly face syndrome AD 17 72 TBX20* Atrial septal defect 4 AD 4 28 TBX5 Holt-Oram syndrome AD 61 127 TFAP2B Patent ductus arteriosus, nonsyndromic, Char syndrome AD 10 12 TGDS Catel-Manzke syndrome AR 6 7 TLL1 Atrial septal
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