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 ACTB gene ACTB Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BARAITSER-WINTER SYNDROME 1; BRWS1 22366783 False 3 100;0;0 4.108 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BARAITSER-WINTER SYNDROME 2; BRWS2 22366783 False 3 100;0;0 4.108 False ENSG00000184009 ENSG00000184009 HGNC:144 AMER1 gene AMER1 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS;OSCS;Cleft palate False 3 100;0;0 4.108 False ENSG00000184675 ENSG00000184675 HGNC:26837 ANKRD11 gene ANKRD11 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism);Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome;Orofacial Clefting with skeletal features 21782149;25838844;2705097;27900361 False 3 0;0;0 4.108 False ENSG00000167522 ENSG00000167522 HGNC:21316 ARHGAP29 gene ARHGAP29 Expert Review Green;Research;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cleft lip with or without cleft palate;Cleft palate 23008150;25704602;27350171;27369588;27033726;25512736;27350171;28029220;27033726 False 3 100;0;0 4.108 False ENSG00000137962 ENSG00000137962 HGNC:30207 ARHGAP31 gene ARHGAP31 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME 1; AOS1 False 3 100;0;0 4.108 False ENSG00000031081 ENSG00000031081 HGNC:29216 ASXL1 gene ASXL1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BOHRING-OPITZ SYNDROME; BOPS False 3 100;0;0 4.108 False ENSG00000171456 ENSG00000171456 HGNC:18318 B3GLCT gene B3GLCT Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal PETERS-PLUS SYNDROME False 3 100;0;0 4.108 False ENSG00000187676 ENSG00000187676 HGNC:20207 BCOR gene BCOR Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 False 3 100;0;0 4.108 False ENSG00000183337 ENSG00000183337 HGNC:20893 BMP2 gene BMP2 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft palate;Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 21671386;29198724 False 3 100;0;0 4.108 False ENSG00000125845 ENSG00000125845 HGNC:1069 C2CD3 gene C2CD3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal OROFACIODIGITAL SYNDROME XIV; OFD14 False 3 100;0;0 4.108 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal OROFACIODIGITAL SYNDROME VI; OFD6 False 3 100;0;0 4.108 False ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Expert list;Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 6, 612284;MKS6;Meckel-Gruber syndrome 18513680;19777577 False 3 0;0;0 4.108 False ENSG00000048342 ENSG00000048342 HGNC:29253 CDH1 gene CDH1 Expert Review Green;Other Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BLEPHAROCHEILODONTIC;Blepharocheilodontic syndrome 1 28301459;27566442 False 3 100;0;0 4.108 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDKN1C gene CDKN1C Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) BECKWITH-WIEDEMANN SYNDROME; BWS 20503313 False 3 100;0;0 4.108 False ENSG00000129757 ENSG00000129757 HGNC:1786 CHD7 gene CHD7 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE SYNDROME False 3 100;0;0 4.108 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHRNG gene CHRNG Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Escobar syndrome, 265000;MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE;Multiple pterygium syndrome, lethal type, 253290;PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE 16826520;22167768;27843868 False 3 0;0;0 4.108 False ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1 False 3 100;0;0 4.108 False ENSG00000169105 ENSG00000169105 HGNC:24464 COL11A1 gene COL11A1 Eligibility statement prior genetic testing;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Marshall Syndrome, OMIM:154780;Stickler syndrome, type II, OMIM:604841 False 3 100;0;0 4.108 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type III;STICKLER SYNDROME, NONOCULAR TYPE;OSMED;STL3;Non-ocular Stickler syndrome;Cleft palate False 3 100;0;0 4.108 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL2A1 gene COL2A1 Eligibility statement prior genetic testing;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal STICKLER SYNDROME, TYPE I (STL1), 108300;Orofacial Clefting with skeletal features;Stickler Syndrome;Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss);Stickler sydrome, type I, non syndromic ocular;STICKLER SYNDROME, VITREOUS TYPE 1;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM;STICKLER SYNDROME, TYPE I;STL1;Cleft palate 16752401;17721977;1677770 False 3 100;0;0 4.108 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL9A1 gene COL9A1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, OMIM:614134 16909383;21421862 False 3 100;0;0 4.108 False ENSG00000112280 ENSG00000112280 HGNC:2217 COLEC10 gene COLEC10 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal 3MC SYNDROME 3; 3MC3 21258343 False 3 100;0;0 4.108 False ENSG00000184374 ENSG00000184374 HGNC:2220 COLEC11 gene COLEC11 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal 3MC SYNDROME 2; 3MC2 False 3 100;0;0 4.108 False ENSG00000118004 ENSG00000118004 HGNC:17213 CTCF gene CTCF Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 False 3 100;0;0 4.108 False ENSG00000102974 ENSG00000102974 HGNC:13723 CTNND1 gene CTNND1 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BLEPHAROCHEILODONTIC;Cleft palate 28301459;32196547 False 3 100;0;0 4.108 False ENSG00000198561 ENSG00000198561 HGNC:2515 DHCR7 gene DHCR7 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SMITH-LEMLI-OPITZ SYNDROME; SLOS False 3 100;0;0 4.108 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHODH gene DHODH Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS = MILLER False 3 100;0;0 4.108 False ENSG00000102967 ENSG00000102967 HGNC:2867 DLL4 gene DLL4 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME False 3 100;0;0 4.108 False ENSG00000128917 ENSG00000128917 HGNC:2910 DOCK6 gene DOCK6 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ADAMS-OLIVER SYNDROME False 3 100;0;0 4.108 False ENSG00000130158 ENSG00000130158 HGNC:19189 DVL1 gene DVL1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2 False 3 100;0;0 4.108 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert Review Green;Other Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 3, 616894 26924530;29575616 False 3 100;0;0 4.108 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYNC2H1 gene DYNC2H1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 False 3 100;0;0 4.108 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 False 3 100;0;0 4.108 False ENSG00000138036 ENSG00000138036 HGNC:24595 EBP gene EBP Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females MEND SYNDROME; MEND False 3 100;0;0 4.108 False ENSG00000147155 ENSG00000147155 HGNC:3133 EDNRA gene EDNRA Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA;MFDA;Cleft palate False 3 100;0;0 4.108 False ENSG00000151617 ENSG00000151617 HGNC:3179 EFNB1 gene EFNB1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Craniofrontonasal dysplasia, OMIM:304110 False 3 100;0;0 4.108 False ENSG00000090776 ENSG00000090776 HGNC:3226 EFTUD2 gene EFTUD2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA False 3 100;0;0 4.108 False ENSG00000108883 ENSG00000108883 HGNC:30858 EIF2S3 gene EIF2S3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK False 3 100;0;0 4.108 False ENSG00000130741 ENSG00000130741 HGNC:3267 EIF4A3 gene EIF4A3 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cleft palate;Robin sequence with cleft mandible and limb anomalies, 268305;Richieri-Costa-Pereira syndrome 10594883;29922329;29112243 False 3 100;0;0 4.108 False ENSG00000141543 ENSG00000141543 HGNC:18683 EOGT gene EOGT Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ADAMS-OLIVER SYNDROME False 3 100;0;0 4.108 False ENSG00000163378 ENSG00000163378 HGNC:28526 EPG5 gene EPG5 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840 3344762;23222957;17163544;20583151;26927810 False 3 100;0;0 4.108 False ENSG00000152223 ENSG00000152223 HGNC:29331 ESCO2 gene ESCO2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Roberts-SC phocomelia syndrome, OMIM:268300;Roberts-SC phocomelia syndrome, MONDO:0100253 32977150;32255174;15821733;16380922;18411254;24864645 False 3 100;0;0 4.108 False ENSG00000171320 ENSG00000171320 HGNC:27230 EYA1 gene EYA1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted BRANCHIOOTORENAL SYNDROME 1; BOR1 False 3 100;0;0 4.108 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAM20C gene FAM20C Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Raine syndrome, 259775 2614802;10482879;17924334;25974638;2194867118000911 False 3 0;0;0 4.108 False ENSG00000177706 ENSG00000177706 HGNC:22140 FGD1 gene FGD1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females AARSKOG-SCOTT SYNDROME; AAS 20082460 False 3 100;0;0 4.108 False ENSG00000102302 ENSG00000102302 HGNC:3663 FGFR1 gene FGFR1 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hartsfield syndrome, 615465;Hypogonadotropic hypogonadism 2 with or without anosmia, 147950;Kallmann syndrome 2 1342859;14564207;19504604;12627230;12627230;16606836;25394172 False 3 0;0;0 4.108 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown APERT SYNDROME False 3 100;0;0 4.108 False ENSG00000066468 ENSG00000066468 HGNC:3689 FLNA gene FLNA Expert Review Green;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Frontometaphyseal dysplasia 1, OMIM:305620;Melnick-Needles syndrome, OMIM:309350;Otopalatodigital syndrome, type I, OMIM:311300;Otopalatodigital syndrome, type II, OMIM:304120 10706363;20301567;16538226;12612583 False 3 100;0;0 4.108 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Skeletal dysplasia with midline cleft palate;Orofacial Clefting with skeletal features;Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460;Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250;Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720;Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721 False 3 0;0;0 4.108 False ENSG00000136068 ENSG00000136068 HGNC:3755 FOXC2 gene FOXC2 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LYMPHEDEMA-DISTICHIASIS SYNDROME;Cleft palate False 3 100;0;0 4.108 False ENSG00000176692 ENSG00000176692 HGNC:3801 FRAS1 gene FRAS1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fraser syndrome, 219000 16894541;18671281;16894541;17163535;18203166 False 3 0;0;0 4.108 False ENSG00000138759 ENSG00000138759 HGNC:19185 GDF11 gene GDF11 Expert Review Green;Literature;NHS GMS Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vertebral hypersegmentation and orofacial anomalies (VHO), OMIM:619122 31215115;34113007;10391213;34061439 False 3 100;0;0 4.108 False ENSG00000135414 ENSG00000135414 HGNC:4216 GJA1 gene GJA1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oculodentodigital dysplasia, OMIM:164200 19338053;12457340;15108203;1057461 False 3 0;0;0 4.108 False ENSG00000152661 ENSG00000152661 HGNC:4274 GLI3 gene GLI3 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pallister-Hall syndrome, 146510 7211952;1605268;15739154;24736735;20301638 False 3 0;0;0 4.108 False ENSG00000106571 ENSG00000106571 HGNC:4319 GPC3 gene GPC3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 False 3 100;0;0 4.108 False ENSG00000147257 ENSG00000147257 HGNC:4451 GRHL3 gene GRHL3 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VAN DER WOUDE SYNDROME 2;Cleft lip False 3 100;0;0 4.108 False ENSG00000158055 ENSG00000158055 HGNC:25839 HDAC8 gene HDAC8 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CORNELIA DE LANGE SYNDROME 5; CDLS5 False 3 100;0;0 4.108 False ENSG00000147099 ENSG00000147099 HGNC:13315 HYAL2 gene HYAL2 Expert Review Green;Literature Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal cleft lip/palate MONDO:0016044;triatrial heart MONDO:0015450 28081210 False 3 50;0;50 4.108 False ENSG00000068001 ENSG00000068001 HGNC:5321 HYLS1 gene HYLS1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft) 3296755; 8322817; 22029171; 15843405 False 3 100;0;0 4.108 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282; 24853502; 27069622 False 3 100;0;0 4.108 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT140 gene IFT140 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 False 3 100;0;0 4.108 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10 False 3 100;0;0 4.108 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT80 gene IFT80 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 False 3 100;0;0 4.108 False ENSG00000068885 ENSG00000068885 HGNC:29262 IMPAD1 gene IMPAD1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate) 21549340; 22887726 False 3 100;0;0 4.108 False ENSG00000104331 ENSG00000104331 HGNC:26019 IRF6 gene IRF6 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial cleft 6, 608864;Cleft Lip with or without Cleft Palate;Orofacial Clefting with skeletal features;Cleft lip +/- palate- unilateral or bilateral;cleft palate;lip pits;VAN DER WOUDE SYNDROME 1;VWS1, POPLITEAL PTERYGIUM SYNDROME;PPS;Cleft palate False 3 100;0;0 4.108 False ENSG00000117595 ENSG00000117595 HGNC:6121 KAT6A gene KAT6A Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32 False 3 100;0;0 4.108 False ENSG00000083168 ENSG00000083168 HGNC:13013 KCNJ2 gene KCNJ2 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222 12163457 False 3 100;0;0 4.108 False ENSG00000123700 ENSG00000123700 HGNC:6263 KDM6A gene KDM6A Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki syndrome 2, 300867 22197486;23076834;24664873 False 3 100;0;0 4.108 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0586 gene KIAA0586 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14 False 3 100;0;0 4.108 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIF1BP gene KIF1BP Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome, 609460; GOSHS 16760737; 7338549 False 3 100;0;0 4.108 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF7 gene KIF7 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ACROCALLOSAL SYNDROME; ACLS 21552264 False 3 100;0;0 4.108 False ENSG00000166813 ENSG00000166813 HGNC:30497 KMT2D gene KMT2D Emory Genetics Laboratory;Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, 147920 20711175;21671394;22126750;26049589;25142838 False 3 100;0;0 4.108 False ENSG00000167548 ENSG00000167548 HGNC:7133 MAP3K7 gene MAP3K7 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontometaphyseal dysplasia 2, 617137; FMD2; autosomal dominant FMD; AD-FMD 28498505; 25899317 False 3 100;0;0 4.108 False ENSG00000135341 ENSG00000135341 HGNC:6859 MAPRE2 gene MAPRE2 Expert list;Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Symmetric circumferential skin creases, congenital, 2, 616734 26637975 False 3 100;0;0 4.108 False ENSG00000166974 ENSG00000166974 HGNC:6891 MASP1 gene MASP1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal 3MC SYNDROME 1; 3MC1 False 3 100;0;0 4.108 False ENSG00000127241 ENSG00000127241 HGNC:6901 MBTPS2 gene MBTPS2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME False 3 100;0;0 4.108 False ENSG00000012174 ENSG00000012174 HGNC:15455 MED12 gene MED12 Expert Review Green;NHS GMS Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hardikar syndrome, OMIM:612726;cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997 33244166 False 3 75;0;25 4.108 False ENSG00000184634 ENSG00000184634 HGNC:11957 MED25 gene MED25 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Basel-Vanagait-Smirin-Yosef syndrome OMIM:616449 25792360;31602195;32324310;32816121 False 3 0;100;0 4.108 False ENSG00000104973 ENSG00000104973 HGNC:28845 MEIS2 gene MEIS2 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate, cardiac defects, and mental retardation, OMIM:600987;Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 25712757;27225850;24678003 False 3 100;0;0 4.108 False ENSG00000134138 ENSG00000134138 HGNC:7001 MID1 gene MID1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OPITZ GBBB SYNDROME, TYPE I; GBBB1 False 3 100;0;0 4.108 False ENSG00000101871 ENSG00000101871 HGNC:7095 MKS1 gene MKS1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 1, 249000; MKS1; Meckel-Gruber Syndrome (MGS) 26037304; 25182137; 24643152 False 3 100;0;0 4.108 False ENSG00000011143 ENSG00000011143 HGNC:7121 MSX1 gene MSX1 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orofacial cleft 5, OMIM:608874;Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600 10742093;12807959;27228008;12097313;16498076;15264286;25565750 False 3 100;0;0 4.108 False ENSG00000163132 ENSG00000163132 HGNC:7391 MYMK gene MYMK Expert Review Green;Literature Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, OMIM:254940;Carey-Fineman-Ziter syndrome, MONDO:0009700 28681861 False 3 100;0;0 4.108 False ENSG00000187616 ENSG00000187616 HGNC:33778 NECTIN1 gene NECTIN1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cleft lip/Palate ectodermal dysplasia syndrome, 225060;Orofacial cleft 7, 225060;Cleft Lip with or without Cleft Palate;Zlotogora-Ogur syndrome;CLP, partial syndactyly of digits, intellectual disability, dysmorphism;Ectodermal dysplasia, Margarita Island type;Cleft lip 26953873;11559849;10932188 False 3 100;0;0 4.108 False ENSG00000110400 ENSG00000110400 HGNC:9706 NEDD4L gene NEDD4L Expert Review;Expert Review Green;Literature;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate, toe syndactyly, periventricular nodular heterotopia;Periventricular nodular heterotopia 7 (includes clefting), 617201;Cleft palate 27694961 False 3 100;0;0 4.108 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEK1 gene NEK1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 False 3 100;0;0 4.108 False ENSG00000137601 ENSG00000137601 HGNC:7744 NIPBL gene NIPBL Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNELIA DE LANGE SYNDROME 1; CDLS1 False 3 100;0;0 4.108 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOTCH1 gene NOTCH1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME False 3 100;0;0 4.108 False ENSG00000148400 ENSG00000148400 HGNC:7881 OFD1 gene OFD1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OROFACIODIGITAL SYNDROME I; OFD1 False 3 100;0;0 4.108 False ENSG00000046651 ENSG00000046651 HGNC:2567 PAX3 gene PAX3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WAARDENBURG False 3 100;0;0 4.108 False ENSG00000135903 ENSG00000135903 HGNC:8617 PHF8 gene PHF8 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME;MRXSSD;Cleft lip False 3 100;0;0 4.108 False ENSG00000172943 ENSG00000172943 HGNC:20672 PIEZO2 gene PIEZO2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3, MARDEN-WALKER SYNDROME; MWKS 24726473 False 3 100;0;0 4.108 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIGN gene PIGN Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 24852103;27038415 False 3 100;0;0 4.108 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGV gene PIGV Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 21739589;24129430 False 3 100;0;0 4.108 False ENSG00000060642 ENSG00000060642 HGNC:26031 PLCB4 gene PLCB4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Auriculocondylar syndrome 2, OMIM:614669;auriculocondylar syndrome 2, MONDO:0013845 16114046;32201334;27007857;23913798;22560091;23315542 False 3 100;0;0 4.108 False ENSG00000101333 ENSG00000101333 HGNC:9059 POLR1B gene POLR1B Expert Review Green;Literature Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Treacher-Collins syndrome 4 OMIM:618939;treacher collins syndrome 4 MONDO:0030067 31649276 False 3 100;0;0 4.108 False ENSG00000125630 ENSG00000125630 HGNC:20454 POLR1C gene POLR1C Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal TREACHER COLLINS SYNDROME 3; TCS3 False 3 100;0;0 4.108 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Treacher Collins syndrome 2, OMIM:613717 False 3 100;0;0 4.108 False ENSG00000186184 ENSG00000186184 HGNC:20422 PORCN gene PORCN Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Focal dermal hypoplasia, 305600;GOLTZ SYNDROME 12071796;18325042;20301712;10602117;21484999;13948891 False 3 0;0;0 4.108 False ENSG00000102312 ENSG00000102312 HGNC:17652 PTCH1 gene PTCH1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 7, OMIM:610828;Basal cell nevus syndrome 1, OMIM:109400 False 3 100;0;0 4.108 False ENSG00000185920 ENSG00000185920 HGNC:9585 RAD21 gene RAD21 Expert Review Green;Literature;NHS GMS Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cornelia de Lange syndrome 4, OMIM:614701 22633399;27882533;31334757;32193685 False 3 100;0;0 4.108 False ENSG00000164754 ENSG00000164754 HGNC:9811 RBM10 gene RBM10 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP SYNDROME;TARPS;Cleft palate 20451169 False 3 100;0;0 4.108 False ENSG00000182872 ENSG00000182872 HGNC:9896 ROR2 gene ROR2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive, OMIM:268310 False 3 100;0;0 4.108 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPL5 gene RPL5 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DIAMOND-BLACKFAN ANEMIA 6;DBA6;Cleft palate 19061985 False 3 100;0;0 4.108 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS26 gene RPS26 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DIAMOND-BLACKFAN ANEMIA 10;DBA10;Cleft palate 20116044 False 3 100;0;0 4.108 False ENSG00000197728 ENSG00000197728 HGNC:10414 SALL4 gene SALL4 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DUANE-RADIAL RAY SYNDROME; DRRS False 3 100;0;0 4.108 False ENSG00000101115 ENSG00000101115 HGNC:15924 SATB2 gene SATB2 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glass syndrome;Chromosome 2q32-q33 deletion syndrome;Orofacial Clefting with skeletal features;Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas;GLASS SYNDROME;GLASS;Cleft palate 16179223 False 3 100;0;0 4.108 False ENSG00000119042 ENSG00000119042 HGNC:21637 SCARF2 gene SCARF2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal VAN DEN ENDE-GUPTA SYNDROME; VDEGS False 3 100;0;0 4.108 False ENSG00000244486 ENSG00000244486 HGNC:19869 SF3B2 gene SF3B2 Expert Review Green;Literature;NHS GMS Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia 34344887 False 3 100;0;0 4.108 False ENSG00000087365 ENSG00000087365 HGNC:10769 SF3B4 gene SF3B4 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 22541558 False 3 100;0;0 4.108 False ENSG00000143368 ENSG00000143368 HGNC:10771 SHH gene SHH Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY 3; HPE3 False 3 100;0;0 4.108 False ENSG00000164690 ENSG00000164690 HGNC:10848 SIX1 gene SIX1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOTIC SYNDROME 3; BOS3 False 3 100;0;0 4.108 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX3 gene SIX3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY 2; HPE2 False 3 100;0;0 4.108 False ENSG00000138083 ENSG00000138083 HGNC:10889 SIX5 gene SIX5 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOTORENAL SYNDROME 2; BOR2 False 3 100;0;0 4.108 False ENSG00000177045 ENSG00000177045 HGNC:10891 SKI gene SKI Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS False 3 100;0;0 4.108 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC26A2 gene SLC26A2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofacial Clefting with skeletal features;Atelosteogenesis II (includes clefting), 256050;De la Chapelle dysplasia (includes clefting), 256050;McAlister Dysplasia;Diastrophic dysplasia (includes clefting), 222600;Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600;DIASTROPHIC DYSPLASIA; DTD 18708426;8571951;15316973;8931695;7923357;15316973;18708426;10465113;11565064;12866518;25667404 False 3 50;0;50 4.108 False ENSG00000155850 ENSG00000155850 HGNC:10994 SMAD3 gene SMAD3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME 3; LDS3 False 3 100;0;0 4.108 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYHRE SYNDROME; MYHRS False 3 100;0;0 4.108 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMC1A gene SMC1A Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370;Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044;Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 False 3 100;0;0 4.108 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNELIA DE LANGE SYNDROME 3; CDLS3 False 3 100;0;0 4.108 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMS gene SMS Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR False 3 100;0;0 4.108 False ENSG00000102172 ENSG00000102172 HGNC:11123 SNRPB gene SNRPB Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBROCOSTOMANDIBULAR SYNDROME;CCMS;Cleft palate 25047197 False 3 100;0;0 4.108 False ENSG00000125835 ENSG00000125835 HGNC:11153 SON gene SON Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZTTK SYNDROME; ZTTKS 27545680 False 3 100;0;0 4.108 False ENSG00000159140 ENSG00000159140 HGNC:11183 SOX9 gene SOX9 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial Clefting with Skeletal Features;Cleft palate with skeletal abnormalities;CAMPOMELIC DYSPLASIA,114290;Acampomelic campomelic dysplasia, 114290;Campomelic dysplasia with autosomal sex reversal, 114290;CAMPOMELIC DYSPLASIA;Cleft palate 7990924;8894698;15806394;24038782;7485151;19449405;12783851 False 3 100;0;0 4.108 False ENSG00000125398 ENSG00000125398 HGNC:11204 SPECC1L gene SPECC1L Expert Review Green;Radboud University Medical Center, Nijmegen Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Facial clefting, oblique, 1, 600251;Opitz GBBB syndrome, type II (with clefting), 145410;OPITZ GBBB SYNDROME, TYPE II; GBBB2 1897571;8849002;21703590;25412741 False 3 100;0;0 4.108 False ENSG00000100014 ENSG00000100014 HGNC:29022 STAMBP gene STAMBP Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, OMIM:614261 False 3 100;0;0 4.108 False ENSG00000124356 ENSG00000124356 HGNC:16950 TBX1 gene TBX1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DiGeorge syndrome, OMIM:188400;Conotruncal anomaly face syndrome, OMIM:217095;Velocardiofacial syndrome, OMIM:192430 14585638;17273972;30137364 False 3 67;33;0 4.108 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX22 gene TBX22 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cleft palate with ankyloglossia, 303400;sub mucous cleft;palate;cleft lip;CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED;CPX;Cleft palate 11559848;12374769;14729838;17846996;19648124;19648291;21248356;22784330 False 3 100;0;0 4.108 False ENSG00000122145 ENSG00000122145 HGNC:11600 TCOF1 gene TCOF1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted TREACHER COLLINS SYNDROME 1; TCS1 False 3 100;0;0 4.108 False ENSG00000070814 ENSG00000070814 HGNC:11654 TCTN3 gene TCTN3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal OROFACIODIGITAL SYNDROME IV; OFD4 False 3 100;0;0 4.108 False ENSG00000119977 ENSG00000119977 HGNC:24519 TELO2 gene TELO2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal YOU-HOOVER-FONG SYNDROME; YHFS False 3 100;0;0 4.108 False ENSG00000100726 ENSG00000100726 HGNC:29099 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOCULOFACIAL SYNDROME;BOFS;Cleft lip 10767004 False 3 100;0;0 4.108 False ENSG00000137203 ENSG00000137203 HGNC:11742 TGDS gene TGDS Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal CATEL-MANZKE SYNDROME;CATMANS;Cleft palate 25480037 False 3 100;0;0 4.108 False ENSG00000088451 ENSG00000088451 HGNC:20324 TGFB3 gene TGFB3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME 5; LDS5 False 3 100;0;0 4.108 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME 1; LDS1 False 3 100;0;0 4.108 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review;Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome;Loeys-Dietz syndrome 2, 610168 15731757;16928994;12975342 False 3 100;0;0 4.108 False ENSG00000163513 ENSG00000163513 HGNC:11773 TMCO1 gene TMCO1 Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME;CFSMR;Cleft palate False 3 100;0;0 4.108 False ENSG00000143183 ENSG00000143183 HGNC:18188 TP63 gene TP63 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292;Hay-Wells syndrome, OMIM:106260;Limb-mammary syndrome, OMIM:603543;Orofacial cleft 8, OMIM:618149;Rapp-Hodgkin syndrome, OMIM:129400;Split-hand/foot malformation 4, OMIM:605289 False 3 100;0;0 4.108 False ENSG00000073282 ENSG00000073282 HGNC:15979 TRAPPC9 gene TRAPPC9 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 13, OMIM:613192 20004764;30853973 False 3 100;0;0 4.108 False ENSG00000167632 ENSG00000167632 HGNC:30832 TRIM37 gene TRIM37 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MULIBREY NANISM False 3 100;0;0 4.108 False ENSG00000108395 ENSG00000108395 HGNC:7523 TUBB gene TUBB Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1 False 3 100;0;0 4.108 False ENSG00000196230 ENSG00000196230 HGNC:20778 TXNL4A gene TXNL4A Expert Review Green;Victorian Clinical Genetics Services Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal BURN-MCKEOWN SYNDROME;BMKS;Cleft palate 25434003 False 3 100;0;0 4.108 False ENSG00000141759 ENSG00000141759 HGNC:30551 USP9X gene USP9X Expert Review Green;Literature Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 99 300919 XLR;Mental retardation, X-linked 99, syndromic, female-restricted 300968 26833328 False 3 100;0;0 4.108 False ENSG00000124486 ENSG00000124486 HGNC:12632 WNT5A gene WNT5A Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 False 3 100;0;0 4.108 False ENSG00000114251 ENSG00000114251 HGNC:12784 XYLT1 gene XYLT1 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal DESBUQUOIS DYSPLASIA 2; DBQD2 False 3 100;0;0 4.108 False ENSG00000103489 ENSG00000103489 HGNC:15516 ZEB2 gene ZEB2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MOWAT-WILSON SYNDROME; MOWS False 3 100;0;0 4.108 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZIC2 gene ZIC2 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HOLOPROSENCEPHALY 5; HPE5 19955556 False 3 100;0;0 4.108 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX False 3 100;0;0 4.108 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZSWIM6 gene ZSWIM6 Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACROMELIC FRONTONASAL DYSOSTOSIS; AFND 25105228 False 3 100;0;0 4.108 False ENSG00000130449 ENSG00000130449 HGNC:29316 ISCA-37393-Gain region Expert Review Green;ClinGen Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes 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 4.108 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 Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes 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 4.108 False 8 8242542 11908820 2 60 cnv_gain 8p23.1 recurrent region (includes GATA4) Gain ISCA-37433-Loss region Expert Review Green;ClinGen Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 188400;immune deficiency;renal anomalies;22q11.2 deletion syndrome;192430;facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay;cleft palate, polydactyly;polyhydramnios;Velocardiofacial syndrome;diaphragmatic hernia;DiGeorge syndrome;congenital heart disease;Learning difficulties 15889418;20301696;15545748 False 3 0;0;0 4.108 False 22 18924718 20299685 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss ISCA-37446-Loss region Expert Review Green;ClinGen Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes 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 4.108 False 22 18924718 21111383 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37467-Gain region Expert Review Green;ClinGen Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype;174500;Triphalangeal thumbpolysyndactyly syndrome;syndactyly type IV with tibial hypoplasia 19291772;18417549;18178630 False 3 0;0;0 4.108 False 7 156791102 156791874 3 60 cnv_gain 7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain ISCA-46303-Loss region ClinGen;Expert Review Green Clefting Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 24934569;26663529;19234473 False 3 100;0;0 4.108 False 17 69896855 71796293 3 60 cnv_loss SOX9 upstream enhancer region Loss