Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABL1 gene ABL1 Expert Review Green;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and skeletal malformations syndrome, 617602 28288113 False 3 0;0;100 1.90 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000097007 ENSG00000097007 HGNC:76 ACVR2B gene ACVR2B Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy syndrome;Heterotaxy, visceral, 4, autosomal, 613751;Visceral Heterotaxy;Heterotaxy, Visceral, 4, Autosomal 9916847 False 3 100;0;0 1.90 False ENSG00000114739 ENSG00000114739 HGNC:174 ADAMTS19 gene ADAMTS19 Expert Review Green;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Non-syndromic heart valve disease;heart valve disease, MONDO:0002869 31844321;32323311 False 3 100;0;0 1.90 False ENSG00000145808 ENSG00000145808 HGNC:17111 CFAP53 gene CFAP53 Expert Review Green;UKGTN Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Visceral Heterotaxy; Heterotaxy, Visceral, 6, Autosomal 26531781; 22577226; 25504577 False 3 100;0;0 1.90 True ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert Review Green;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 2, autosomal, 605376 11062482 False 3 50;0;50 1.90 True ENSG00000136698 ENSG00000136698 HGNC:18292 CTNND1 gene CTNND1 Expert Review Green;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cardiovascular anomalies 32196547 False 3 100;0;0 1.90 False ENSG00000198561 ENSG00000198561 HGNC:2515 ELN gene ELN Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Supravalvar aortic stenosis, 185500 11175284 False 3 100;0;0 1.90 False ENSG00000049540 ENSG00000049540 HGNC:3327 FLNA gene FLNA Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cardiac valvular dysplasia, X-linked, OMIM:314400 17190868;27739212;29237676 False 3 0;100;0 1.90 False ENSG00000196924 ENSG00000196924 HGNC:3754 GATA4 gene GATA4 Expert Review Green;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Testicular anomalies with or without congenital heart disease, 615542;Atrial septal defect 2, 607941;Atrioventricular septal defect 4, 614430;Tetralogy of Fallot, 187500;Ventricular septal defect 1, 614429 False 3 0;0;0 1.90 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Expert Review Green;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 3 0;0;0 1.90 False ENSG00000141448 ENSG00000141448 HGNC:4174 GDF1 gene GDF1 Expert Review Green;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 6, OMIM:613854;Right atrial isomerism (Ivemark), OMIM:208530;Tetralogy of Fallot;Double-outlet right ventricle;Right atrial isomerism;Visceral Heterotaxy, Transposition Of The Great Arteries 20413652;28991257 False 3 0;0;100 1.90 False ENSG00000130283 ENSG00000130283 HGNC:4214 HYAL2 gene HYAL2 Expert Review Green;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063 28081210;23172227;26515055 False 3 0;100;0 1.90 False ENSG00000068001 ENSG00000068001 HGNC:5321 JAG1 gene JAG1 Expert Review Green;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, OMIM:118450;Tetralogy of Fallot, OMIM:187500;Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992 False 3 0;0;0 1.90 False ENSG00000101384 ENSG00000101384 HGNC:6188 MMP21 gene MMP21 Expert Review Green;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Heterotaxy,visceral,7,autosomal, 616749 26437028 False 3 100;0;0 1.90 True ENSG00000154485 ENSG00000154485 HGNC:14357 MYH6 gene MYH6 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Atrial septal defect 3 614089;Shone complex 15735645;20656787;28991257 False 3 0;100;0 1.90 False ENSG00000197616 ENSG00000197616 HGNC:7576 NKX2-5 gene NKX2-5 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mutations in the NKX2-5 gene have been associated with atrioventricular (AV) conduction block, septal defects, conotruncal abnormalities (particularly Tetrology of Fallot), and AV valve formation defects.;Hypoplastic left heart syndrome 2;Atrioventricular (AV) conduction block; septal defects; conotruncal abnormalities, particularly Tetrology of Fallot; AV valve formation defects False 3 0;0;0 1.90 False ENSG00000183072 ENSG00000183072 HGNC:2488 NODAL gene NODAL Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy syndrome;Heterotaxy, visceral, 5, 270100;Visceral Heterotaxy;Heterotaxy, Visceral, 5, Autosomal 19064609 False 3 100;0;0 1.90 True ENSG00000156574 ENSG00000156574 HGNC:7865 NOTCH2 gene NOTCH2 Expert Review Green;Other Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Alagille syndrome 2 610205" PMID: 16773578;PMID: 22209762 False 3 100;0;0 1.90 True ENSG00000134250 ENSG00000134250 HGNC:7882 NR2F2 gene NR2F2 Expert Review Green;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects, multiple types, 4 615779 24702954 False 3 50;0;50 1.90 False ENSG00000185551 ENSG00000185551 HGNC:7976 SPRED2 gene SPRED2 Expert Review Green;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal developmental delay;intellectual disability;cardiac defects;short stature;skeletal anomalies;a typical facial gestalt 34626534 False 3 100;0;0 1.90 False ENSG00000198369 ENSG00000198369 HGNC:17722 TAB2 gene TAB2 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects, nonsyndromic, 2 614980 20493459;26139517;28386937;28135719 False 3 100;0;0 1.90 False ENSG00000055208 ENSG00000055208 HGNC:17075 TBX20 gene TBX20 Expert Review Green;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 4, OMIM:611363;atrial septal defect 4, MONDO:0012654;Dilated cardiomyopathy, MONDO:0005021 17668378;19762328;37657916;33585493;29089047;35282022 False 3 50;50;0 1.90 False Other - please provide details in the comments ENSG00000164532 ENSG00000164532 HGNC:11598 TBX5 gene TBX5 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holt-Oram syndrome, 142900 8988164, 20301290 False 3 0;0;0 1.90 False ENSG00000089225 ENSG00000089225 HGNC:11604 TLL1 gene TLL1 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 6, OMIM:613087 18830233;30538173;27418595;10331975;31570783 False 3 0;100;0 1.90 False ENSG00000038295 ENSG00000038295 HGNC:11843 TRAF7 gene TRAF7 Expert Review Green;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac, facial, and digital anomalies with developmental delay 618164 29961569 False 3 100;0;0 1.90 False ENSG00000131653 ENSG00000131653 HGNC:20456 ZIC3 gene ZIC3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females x-linked Heterotaxy syndrome, Visceral, 1;Heterotaxy, visceral, 1, X-linked 306955;Visceral Heterotaxy;Heterotaxy, Visceral, 1, X-Linked 9354794 False 3 100;0;0 1.90 True ENSG00000156925 ENSG00000156925 HGNC:12874 ACTC1 gene ACTC1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 5, 612794 17947298, 24461919 False 2 0;100;0 1.90 False ENSG00000159251 ENSG00000159251 HGNC:143 CRELD1 gene CRELD1 Expert Review Amber;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 12632326, 21080147 False 2 0;50;50 1.90 True ENSG00000163703 ENSG00000163703 HGNC:14630 GATA5 gene GATA5 Expert Review Amber;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Wei (2013) Int J Med Sci 10,34) doi:10.7150/ijms.5270 False 2 0;100;0 1.90 False ENSG00000130700 ENSG00000130700 HGNC:15802 LEFTY2 gene LEFTY2 Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy syndrome 10053005 False 2 0;100;0 1.90 True ENSG00000143768 ENSG00000143768 HGNC:3122 NOTCH1 gene NOTCH1 Radboud University Medical Center, Nijmegen;UKGTN Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Aortic valve disease 1, 109730 16025100, 18593716, 5070860 False 2 100;0;0 1.90 False ENSG00000148400 ENSG00000148400 HGNC:7881 SHROOM3 gene SHROOM3 Expert Review Amber;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Unknown Heterotaxy 21936905 False 2 0;100;0 1.90 True ENSG00000138771 ENSG00000138771 HGNC:30422 ALDH1A2 gene ALDH1A2 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Pavan (2009) BMC Med Genet 10, 113) DOI: 10.1186/1471-2350-10-113 False 1 0;0;0 1.90 False ENSG00000128918 ENSG00000128918 HGNC:15472 CITED2 gene CITED2 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect, 8 614433, Ventricular septal defect 2, 614431 24848765, 16287139 False 1 0;0;100 1.90 False ENSG00000164442 ENSG00000164442 HGNC:1987 CRKL gene CRKL Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Tomita-Mitchell (2012) Physiol Genomics 44,518) PMID: 22318994 False 1 0;0;0 1.90 False ENSG00000099942 ENSG00000099942 HGNC:2363 DISP1 gene DISP1 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Craniofacial and neuro-developmental abnormalities (Roessler (2009) Hum Genet125,393);Diaphragmatic hernia, congenital (Kantarci (2010) Am J Med Genet A 152A,2493);Tetralogy of Fallot (Silversides (2012) PLoS Genet 8, e1002843) False 1 0;0;100 1.90 False ENSG00000154309 ENSG00000154309 HGNC:19711 FLT4 gene FLT4 Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tetralogy of Fallot PMID:28991257 False 1 50;50;0 1.90 False ENSG00000037280 ENSG00000037280 HGNC:3767 FOXH1 gene FOXH1 Expert Review Red;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venticular septal defect, transposition of the great arteries 19525021, 19933292 False 1 0;0;100 1.90 False ENSG00000160973 ENSG00000160973 HGNC:3814 FOXL1 gene FOXL1 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Hypoplastic left heart syndrome (Iascone (2012) Clin Genet 81,542) DOI: 10.1111/j.1399-0004.2011.01674.x False 1 0;0;100 1.90 False ENSG00000176678 ENSG00000176678 HGNC:3817 GJA1 gene GJA1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Hypoplastic left heart syndrome 1, OMIM:241550;Atrioventricular septal defect 3, OMIM:600309 False 1 0;0;100 1.90 False ENSG00000152661 ENSG00000152661 HGNC:4274 HAND2 gene HAND2 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Topf (2014) PLoS One 9,e95453) http://dx.doi.org/10.1371/journal.pone.0095453 False 1 0;0;100 1.90 False ENSG00000164107 ENSG00000164107 HGNC:4808 IRX4 gene IRX4 Expert Review Red;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular septal defect 21544582 False 1 0;0;100 1.90 False ENSG00000113430 ENSG00000113430 HGNC:6129 MED13L gene MED13L Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Transposition of the great arteries, dextro-looped 1, 608808 False 1 0;0;100 1.90 False ENSG00000123066 ENSG00000123066 HGNC:22962 MYOM2 gene MYOM2 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Grunert (2014) Hum Mol Genet 23,3115) doi: 10.1093/hmg/ddu021. False 1 0;0;100 1.90 False ENSG00000036448 ENSG00000036448 HGNC:7614 NFATC1 gene NFATC1 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Silversides (2012) PLoS Genet 8) http://dx.doi.org/10.1371/journal.pgen.1002843 False 1 0;0;100 1.90 False ENSG00000131196 ENSG00000131196 HGNC:7775 NKX2-6 gene NKX2-6 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Conotruncal heart malformations 217095, Persistent truncus arteriosus 217095 15649947, 24421281 False 1 0;0;100 1.90 False ENSG00000180053 ENSG00000180053 HGNC:32940 PLXND1 gene PLXND1 Expert Review Red;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Truncus arteriosus 25713110 False 1 0;0;100 1.90 False ENSG00000004399 ENSG00000004399 HGNC:9107 RPSA gene RPSA Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Asplenia, isolated congenital, 271400 False 1 0;0;100 1.90 True ENSG00000168028 ENSG00000168028 HGNC:6502 SEMA3D gene SEMA3D Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Siversides (2012) PLoS Genet 8,e1002843) http://dx.doi.org/10.1371/journal.pgen.1002843 False 1 0;0;100 1.90 False ENSG00000153993 ENSG00000153993 HGNC:10726 SMAD6 gene SMAD6 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease 2, 614823 22275001 False 1 0;0;100 1.90 False ENSG00000137834 ENSG00000137834 HGNC:6772 TBX1 gene TBX1 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot False 1 0;50;50 1.90 False ENSG00000184058 ENSG00000184058 HGNC:11592 ZFPM2 gene ZFPM2 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tetralogy of Fallot, OMIM:187500 False 1 0;0;100 1.90 False ENSG00000169946 ENSG00000169946 HGNC:16700 ISCA-37392-Loss region Expert Review Green;ClinGen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 194050;Williams syndrome 20301427 False 3 0;0;0 1.90 False 7 73330452 74728172 3 60 cnv_loss 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss ISCA-37393-Gain region Expert Review Green;ClinGen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome;115470 11693792;22890013;22495764 False 3 0;0;0 1.90 False 22 16912063 18109094 3 60 cnv_gain 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain ISCA-37423-Gain region Expert Review Green;ClinGen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.;mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly);congenital heart disease;8p23.1 duplication syndrome 21933911;23345203 False 3 100;0;0 1.90 False 8 8242542 11908820 2 60 cnv_gain 8p23.1 recurrent region (includes GATA4) Gain ISCA-37423-Loss region Expert Review Green;ClinGen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported.;congenital heart defects, microcephaly, psychomotor delay and behavioural problems;hyperactivity, craniofacial abnormalities;8p23.1 microdeletion syndrome;moderate intellectual disability 23239632;20969981 False 3 100;0;0 1.90 False 8 8242542 11908820 3 60 cnv_loss 8p23.1 recurrent region (includes GATA4) Loss ISCA-37434-Loss region Expert Review Green;ClinGen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown posteriorly rotated, low-set, abnormal ears;brachycephaly;epicanthus;heart defects;pointed chin;deep-set eyes;microcephaly;hypotonia;seizures;poor/absent speech;central nervous system anomalies;large anterior fontanels;microbrachycephaly;mental retardation;growth impairment;large, late-closing anterior fontanel;flat nose;nasal bridge;developmental delay;hearing impairment;distinct dysmorphic features;1p36 deletion syndrome;607872 17918734;22766398;18245432 False 3 0;0;0 1.90 False 1 898703 6229913 3 60 cnv_loss 1p36 terminal region (includes GABRD) Loss ISCA-37446-Loss region Expert Review Green;ClinGen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 188400;neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells;micrognathia;clefting;Hearing deficits;Velocardiofacial syndrome;cardiac malformations;DiGeorge syndrome False 3 0;0;0 1.90 False 22 18924718 21111383 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37501-Loss region Expert Review Green;Expert list Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chromosome 17q23.1-q23.2 deletion syndrome, 613355;PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities;PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss 20206336;22052739 False 3 100;0;0 1.90 False 17 60035641 62198448 3 60 cnv_loss 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss