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 ACBD5 gene ACBD5 Expert Review Red;Victorian Clinical Genetics Services Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy, OMIM:618863 23105016;27899449;27799409;33427402 False 1 0;0;100 6.23 False ENSG00000107897 ENSG00000107897 HGNC:23338 ADNP gene ADNP Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Helsmoortel-van der Aa syndrome, OMIM:615873 29724491;37010288 False 1 0;0;100 6.23 False ENSG00000101126 ENSG00000101126 HGNC:15766 ALG9 gene ALG9 Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS False 1 0;0;100 6.23 False ENSG00000086848 ENSG00000086848 HGNC:15672 ARCN1 gene ARCN1 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164 27476655 False 1 0;0;100 6.23 False ENSG00000095139 ENSG00000095139 HGNC:649 ATRX gene ATRX Expert Review Red Clefting Musculoskeletal MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 9788563 False 1 0;0;100 6.23 False ENSG00000085224 ENSG00000085224 HGNC:886 B3GAT3 gene B3GAT3 Expert Review Red Clefting Musculoskeletal MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD False 1 0;0;100 6.23 False ENSG00000149541 ENSG00000149541 HGNC:923 BMP4 gene BMP4 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial cleft 11, 600625;Cleft Lip with or without Cleft Palate;Orofacial Cleft;Cleft lip with or without cleft palate, non syndromic, 11;MICROPHTHALMIA, SYNDROMIC 6;MCOPS6, OROFACIAL CLEFT 11;OFC11;Cleft lip False 1 0;50;50 6.23 False ENSG00000125378 ENSG00000125378 HGNC:1071 CANT1 gene CANT1 Expert Review Red Clefting Musculoskeletal DESBUQUOIS DYSPLASIA 1; DBQD1 27881841 False 1 0;0;100 6.23 False ENSG00000171302 ENSG00000171302 HGNC:19721 CASK gene CASK Expert Review Red Clefting Musculoskeletal MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH False 1 0;0;100 6.23 False ENSG00000147044 ENSG00000147044 HGNC:1497 CDK13 gene CDK13 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 29222009;37010288 False 1 0;0;100 6.23 False ENSG00000065883 ENSG00000065883 HGNC:1733 CDKL5 gene CDKL5 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 37010288 False 1 0;0;100 6.23 False ENSG00000008086 ENSG00000008086 HGNC:11411 CHD1 gene CHD1 Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft palate False 1 0;0;0 6.23 False ENSG00000153922 ENSG00000153922 HGNC:1915 CHD3 gene CHD3 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Snijders Blok-Campeau syndrome, OMIM:618205 37010288 False 1 0;0;100 6.23 False ENSG00000170004 ENSG00000170004 HGNC:1918 CHSY1 gene CHSY1 Expert list;Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, 605282;TPBS 15365460 False 1 0;0;0 6.23 False ENSG00000131873 ENSG00000131873 HGNC:17198 CKAP2L gene CKAP2L Expert list;Radboud University Medical Center, Nijmegen Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Filippi syndrome, 272440 15365457;12416644 False 1 0;0;0 6.23 False ENSG00000169607 ENSG00000169607 HGNC:26877 COL9A3 gene COL9A3 Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft palate False 1 0;0;0 6.23 False ENSG00000092758 ENSG00000092758 HGNC:2219 CSNK2A1 gene CSNK2A1 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 37010288 False 1 0;0;100 6.23 False ENSG00000101266 ENSG00000101266 HGNC:2457 DIS3L2 gene DIS3L2 Expert list;Illumina TruGenome Clinical Sequencing Services Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Perlman syndrome, 267000 22306653;23486540;28328139 False 1 0;0;100 6.23 False ENSG00000144535 ENSG00000144535 HGNC:28648 DLG1 gene DLG1 Literature Clefting Musculoskeletal Unknown Non-syndromic cleft lip with or without cleft palate PMID: 28926086 False 1 0;0;100 6.23 False ENSG00000075711 ENSG00000075711 HGNC:2900 DNMT3B gene DNMT3B Expert list Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000 17893117;23486536 False 1 0;0;100 6.23 False ENSG00000088305 ENSG00000088305 HGNC:2979 EDN1 gene EDN1 Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft palate False 1 0;0;0 6.23 False ENSG00000078401 ENSG00000078401 HGNC:3176 EP300 gene EP300 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 2, OMIM:613684 27648933;37010288 False 1 0;0;100 6.23 False ENSG00000100393 ENSG00000100393 HGNC:3373 FAM111A gene FAM111A Expert list;Radboud University Medical Center, Nijmegen Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gracile bone dysplasia; 602361 16086393;23684011 False 1 0;0;100 6.23 False ENSG00000166801 ENSG00000166801 HGNC:24725 FANCL gene FANCL Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, 614083 25754594 False 1 0;0;100 6.23 False ENSG00000115392 ENSG00000115392 HGNC:20748 FOXE1 gene FOXE1 Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft palate False 1 0;0;0 6.23 False ENSG00000178919 ENSG00000178919 HGNC:3806 FREM2 gene FREM2 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fraser syndrome, 219000 16894541;15838507;18203166;18671281 False 1 0;0;100 6.23 False ENSG00000150893 ENSG00000150893 HGNC:25396 GATA6 gene GATA6 Expert Review Red Clefting Musculoskeletal Unknown CONOTRUNCAL HEART MALFORMATIONS; CTHM 27391658 False 1 0;0;100 6.23 False ENSG00000141448 ENSG00000141448 HGNC:4174 GDF1 gene GDF1 Expert Review Red Clefting Musculoskeletal Unknown CONOTRUNCAL HEART MALFORMATIONS; CTHM 16564040 False 1 0;0;100 6.23 False ENSG00000130283 ENSG00000130283 HGNC:4214 GMNN gene GMNN Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Meier-Gorlin syndrome 6, OMIM:616835 26637980 False 1 0;0;0 6.23 False ENSG00000112312 ENSG00000112312 HGNC:17493 GNAI3 gene GNAI3 Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft palate False 1 0;0;0 6.23 False ENSG00000065135 ENSG00000065135 HGNC:4387 GRIP1 gene GRIP1 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fraser syndrome, 219000 16894541;18000968;22510445 False 1 0;0;100 6.23 False ENSG00000155974 ENSG00000155974 HGNC:18708 GYPE gene GYPE Clefting Musculoskeletal Unknown False 1 0;100;0 6.23 False ENSG00000197465 ENSG00000197465 HGNC:4705 HOXA2 gene HOXA2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Victorian Clinical Genetics Services Clefting Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microtia, Hearing Impairment, and Cleft Palate;Ear anomalies and orofacial clefting;?Microtia with or without hearing impairment (includes clefting), 612290, (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown);?Microtia with or without hearing impairment (includes clefting), 612290, (BIALLELIC, autosomal or pseudoautosomal);Cleft palate 18394579;23775976;27503514 False 1 0;0;100 6.23 False ENSG00000105996 ENSG00000105996 HGNC:5103 INTS1 gene INTS1 Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft palate False 1 0;0;0 6.23 False ENSG00000164880 ENSG00000164880 HGNC:24555 KANSL1 gene KANSL1 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome, 610443; KDVS 22544363; 20301783 False 1 0;0;100 6.23 False ENSG00000120071 ENSG00000120071 HGNC:24565 KIF22 gene KIF22 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546; SEMDJL2 22653704 False 1 0;0;100 6.23 False ENSG00000079616 ENSG00000079616 HGNC:6391 LMX1B gene LMX1B Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nail-patella syndrome, 161200 2012138 False 1 0;0;100 6.23 False ENSG00000136944 ENSG00000136944 HGNC:6654 MAGEL2 gene MAGEL2 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schaaf-Yang syndrome, OMIM:615547 31397880;37010288 False 1 0;0;100 6.23 False ENSG00000254585 ENSG00000254585 HGNC:6814 METTL23 gene METTL23 Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 44, 615942; MRT44 24501276 False 1 0;0;100 6.23 False ENSG00000181038 ENSG00000181038 HGNC:26988 MYCN gene MYCN Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft lip with or without cleft palate, MONDO:0016034 34590686 False 1 0;0;100 6.23 False ENSG00000134323 ENSG00000134323 HGNC:7559 NBN gene NBN Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, 251260; NBS 22373003; 3857858 False 1 0;0;100 6.23 False ENSG00000104320 ENSG00000104320 HGNC:7652 NKX2-5 gene NKX2-5 Expert Review Red Clefting Musculoskeletal Unknown CONOTRUNCAL HEART MALFORMATIONS; CTHM 22155005 False 1 0;0;100 6.23 False ENSG00000183072 ENSG00000183072 HGNC:2488 NKX2-6 gene NKX2-6 Expert Review Red Clefting Musculoskeletal Unknown CONOTRUNCAL HEART MALFORMATIONS; CTHM False 1 0;0;100 6.23 False ENSG00000180053 ENSG00000180053 HGNC:32940 NSDHL gene NSDHL Expert Review Red Clefting Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS False 1 0;0;100 6.23 False ENSG00000147383 ENSG00000147383 HGNC:13398 PGAP2 gene PGAP2 Expert Review Red Clefting Musculoskeletal Unknown HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 False 1 0;0;100 6.23 False ENSG00000148985 ENSG00000148985 HGNC:17893 PIGA gene PIGA Expert Review Red Clefting Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2 22305531;22514539 False 1 0;0;100 6.23 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGL gene PIGL Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME 28371479 False 1 0;0;100 6.23 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIK3R2 gene PIK3R2 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 False 1 0;0;100 6.23 False ENSG00000105647 ENSG00000105647 HGNC:8980 PLEKHA5 gene PLEKHA5 Expert list Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cleft lip 29805042 False 1 0;0;100 6.23 False ENSG00000052126 ENSG00000052126 HGNC:30036 POLA1 gene POLA1 Literature Clefting Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females 31006512;37010288 False 1 0;0;100 6.23 False ENSG00000101868 ENSG00000101868 HGNC:9173 POLR2A gene POLR2A Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603 31353023;37010288 False 1 0;0;100 6.23 False ENSG00000181222 ENSG00000181222 HGNC:9187 POMT1 gene POMT1 Expert list Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 12369018 False 1 0;0;0 6.23 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert list Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 15894594 False 1 0;0;0 6.23 False ENSG00000009830 ENSG00000009830 HGNC:19743 PQBP1 gene PQBP1 Expert list Clefting Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, 309500 7943045 False 1 0;0;0 6.23 False ENSG00000102103 ENSG00000102103 HGNC:9330 PSAT1 gene PSAT1 Expert list Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2, 616038 25152457 False 1 0;0;0 6.23 False ENSG00000135069 ENSG00000135069 HGNC:19129 PTDSS1 gene PTDSS1 Expert list;Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lenz-Majewski hyperostotic dwarfism, 151050;progressive sclerosis and hyperostosis of skull, vertebra and tubular bones;growth restriction;broad prominent forehead;delayed closure of the fontanelles;brachydactyly of fingers and toes;proximal symphalangism cutis laxa;dental enamel hypoplasia;choanal atresia 15194948;24241535;25363158;26117586 False 1 0;0;100 6.23 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000156471 ENSG00000156471 HGNC:9587 PUF60 gene PUF60 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, OMIM:615583 24140112;27804958;37010288 False 1 0;0;100 6.23 False ENSG00000179950 ENSG00000179950 HGNC:17042 RAI1 gene RAI1 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SMITH-MAGENIS SYNDROME; SMS False 1 0;0;100 6.23 False ENSG00000108557 ENSG00000108557 HGNC:9834 RBM8A gene RBM8A Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR False 1 0;0;100 6.23 False ENSG00000131795 ENSG00000265241 HGNC:9905 RPL11 gene RPL11 Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft palate False 1 0;0;0 6.23 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPS17 gene RPS17 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DIAMOND-BLACKFAN ANEMIA 4; DBA4 False 1 0;0;100 6.23 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DIAMOND-BLACKFAN ANEMIA 1; DBA1 False 1 0;0;100 6.23 False ENSG00000105372 ENSG00000105372 HGNC:10402 RSPO2 gene RSPO2 Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft lip False 1 0;0;0 6.23 False ENSG00000147655 ENSG00000147655 HGNC:28583 SELENOI gene SELENOI Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft palate False 1 0;0;0 6.23 False ENSG00000138018 ENSG00000138018 HGNC:29361 SIN3A gene SIN3A Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Witteveen-Kolk syndrome, OMIM:613406 33437032;37010288 False 1 0;0;100 6.23 False ENSG00000169375 ENSG00000169375 HGNC:19353 SIX5 gene SIX5 Expert Review Red;NHS GMS Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 2, OMIM:610896 False 1 33;0;67 6.23 False ENSG00000177045 ENSG00000177045 HGNC:10891 SMAD2 gene SMAD2 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 29967133;29392890 False 1 0;100;0 6.23 False ENSG00000175387 ENSG00000175387 HGNC:6768 SMOC1 gene SMOC1 Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA WITH LIMB ANOMALIES; MLA False 1 0;0;100 6.23 False ENSG00000198732 ENSG00000198732 HGNC:20318 SOX11 gene SOX11 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 29437512;37010288 False 1 0;0;100 6.23 False ENSG00000176887 ENSG00000176887 HGNC:11191 SOX2 gene SOX2 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 False 1 0;0;100 6.23 False ENSG00000181449 ENSG00000181449 HGNC:11195 SOX5 gene SOX5 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 37010288 False 1 0;0;100 6.23 False ENSG00000134532 ENSG00000134532 HGNC:11201 STIL gene STIL Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7 False 1 0;0;100 6.23 False ENSG00000123473 ENSG00000123473 HGNC:10879 STRA6 gene STRA6 Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA, SYNDROMIC 9; MCOPS9 False 1 0;0;100 6.23 False ENSG00000137868 ENSG00000137868 HGNC:30650 STXBP1 gene STXBP1 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 False 1 0;0;100 6.23 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUMO1 gene SUMO1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial cleft 10, 613705;Cleft Lip with or without Cleft Palate 22492558 False 1 0;0;100 6.23 False ENSG00000116030 ENSG00000116030 HGNC:12502 TCF12 gene TCF12 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 3, OMIM:615314 23354436;31353793;37010288 False 1 0;0;100 6.23 False ENSG00000140262 ENSG00000140262 HGNC:11623 TFAP2B gene TFAP2B Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft lip False 1 0;0;0 6.23 False ENSG00000008196 ENSG00000008196 HGNC:11743 TGFB2 gene TGFB2 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4, 614816 29392890 False 1 0;100;0 6.23 False ENSG00000092969 ENSG00000092969 HGNC:11768 TSR2 gene TSR2 Victorian Clinical Genetics Services Clefting Musculoskeletal Cleft palate False 1 0;0;0 6.23 False ENSG00000158526 ENSG00000158526 HGNC:25455 TWIST2 gene TWIST2 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BARBER-SAY SYNDROME; BBRSAY False 1 0;0;100 6.23 False ENSG00000233608 ENSG00000233608 HGNC:20670 UBB gene UBB Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft palate, isolated, 119540 False 1 0;0;100 6.23 False ENSG00000170315 ENSG00000170315 HGNC:12463 UQCC2 gene UQCC2 Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 24385928 False 1 0;0;100 6.23 False ENSG00000137288 ENSG00000137288 HGNC:21237 VAX1 gene VAX1 Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA, SYNDROMIC 11; MCOPS11 22095910 False 1 0;0;100 6.23 False ENSG00000148704 ENSG00000148704 HGNC:12660 WASHC5 gene WASHC5 Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal RITSCHER-SCHINZEL SYNDROME 1; RTSC1 24065355 False 1 0;0;100 6.23 False ENSG00000164961 ENSG00000164961 HGNC:28984 WDR26 gene WDR26 Literature Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 37010288 False 1 0;0;100 6.23 False ENSG00000162923 ENSG00000162923 HGNC:21208 WNT3 gene WNT3 Expert Review Red Clefting Musculoskeletal BIALLELIC, autosomal or pseudoautosomal TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE; TETAMS 14872406 False 1 0;0;100 6.23 False ENSG00000108379 ENSG00000108379 HGNC:12782 YAP1 gene YAP1 Expert Review Red Clefting Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION; COB1 24462371 False 1 0;0;100 6.23 False ENSG00000137693 ENSG00000137693 HGNC:16262