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 disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy, MIM# 618863;Cleft palate 27799409;23105016;33427402 False 1 0;0;100 0.318 True ENSG00000107897 ENSG00000107897 HGNC:23338 AFDN gene AFDN Expert Review Red;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft lip/palate, MONDO:0016044, AFDN-related 36384317 False 1 0;0;100 0.318 True ENSG00000130396 ENSG00000130396 HGNC:7137 ALG9 gene ALG9 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal GILLESSEN-KAESBACH-NISHIMURA SYNDROME;GIKANIS False 1 0;0;0 0.318 False ENSG00000086848 ENSG00000086848 HGNC:15672 ATRX gene ATRX Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1;MRXHF1 9788563 False 1 0;0;0 0.318 False ENSG00000085224 ENSG00000085224 HGNC:886 B3GAT3 gene B3GAT3 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown JDSCD;MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS False 1 0;0;0 0.318 False ENSG00000149541 ENSG00000149541 HGNC:923 BOC gene BOC Expert Review Red;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial clefting, MONDO:0000358, BOC-related 40464334;28677295 False 1 0;0;100 0.318 True ENSG00000144857 ENSG00000144857 HGNC:17173 CANT1 gene CANT1 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown DBQD1;DESBUQUOIS DYSPLASIA 1 27881841 False 1 0;0;0 0.318 False ENSG00000171302 ENSG00000171302 HGNC:19721 CASK gene CASK Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA;MICPCH False 1 0;0;0 0.318 False ENSG00000147044 ENSG00000147044 HGNC:1497 CHD1 gene CHD1 Expert Review Red;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown Cleft palate False 1 0;0;100 0.318 True ENSG00000153922 ENSG00000153922 HGNC:1915 CHSY1 gene CHSY1 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, 605282;TPBS 15365460 False 1 0;0;0 0.318 False ENSG00000131873 ENSG00000131873 HGNC:17198 CKAP2L gene CKAP2L Expert list;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Filippi syndrome, 272440 12416644;15365457 False 1 0;0;0 0.318 False ENSG00000169607 ENSG00000169607 HGNC:26877 DIS3L2 gene DIS3L2 Expert list;Illumina TruGenome Clinical Sequencing Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Perlman syndrome, 267000 23486540;22306653;28328139 False 1 0;0;0 0.318 False ENSG00000144535 ENSG00000144535 HGNC:28648 DLG1 gene DLG1 Expert Review Red;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cleft lip/palate MONDO:0016044 PMID: 28926086 False 1 0;0;100 0.318 True ENSG00000075711 ENSG00000075711 HGNC:2900 DLX4 gene DLX4 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial cleft 15, MIM# 616788 25954033;29738288 False 1 0;0;100 0.318 True ENSG00000108813 ENSG00000108813 HGNC:2917 DNMT3B gene DNMT3B Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000 17893117;23486536 False 1 0;0;0 0.318 False ENSG00000088305 ENSG00000088305 HGNC:2979 FAM111A gene FAM111A Expert list;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 602361;Gracile bone dysplasia 23684011;16086393 False 1 0;0;0 0.318 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 disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, 614083 25754594 False 1 0;0;0 0.318 False ENSG00000115392 ENSG00000115392 HGNC:20748 FOXP2 gene FOXP2 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Speech-language disorder-1, MIM# 602081 27734906;15326624 False 1 0;0;100 0.318 True ENSG00000128573 ENSG00000128573 HGNC:13875 FREM2 gene FREM2 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fraser syndrome, 219000 15838507;16894541;18671281;18203166 False 1 0;0;0 0.318 False ENSG00000150893 ENSG00000150893 HGNC:25396 FST gene FST Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted orofacial clefting PubMed: 31215115 False 1 0;0;100 0.318 True ENSG00000134363 ENSG00000134363 HGNC:3971 GATA6 gene GATA6 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown CTHM;CONOTRUNCAL HEART MALFORMATIONS 27391658 False 1 0;0;0 0.318 False ENSG00000141448 ENSG00000141448 HGNC:4174 GDF1 gene GDF1 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown CTHM;CONOTRUNCAL HEART MALFORMATIONS 16564040 False 1 0;0;0 0.318 False ENSG00000130283 ENSG00000130283 HGNC:4214 GMNN gene GMNN Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Meier-Gorlin syndrome 6, 616835 26637980 False 1 0;0;0 0.318 False ENSG00000112312 ENSG00000112312 HGNC:17493 GNAI3 gene GNAI3 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Auriculocondylar syndrome 1, OMIM #602483 22560091;16114046 False 1 0;0;100 0.318 True ENSG00000065135 ENSG00000065135 HGNC:4387 GRIP1 gene GRIP1 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fraser syndrome, 219000 22510445;16894541;18000968 False 1 0;0;0 0.318 False ENSG00000155974 ENSG00000155974 HGNC:18708 HOXA2 gene HOXA2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Ear anomalies and orofacial clefting;Microtia, Hearing Impairment, and Cleft Palate;Cleft palate;?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) 18394579;23775976;27503514 False 1 0;0;100 0.318 True ENSG00000105996 ENSG00000105996 HGNC:5103 INTS1 gene INTS1 Expert list;Expert Review Red;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571;Cleft palate 28542170;30622326;31428919 False 1 0;0;100 0.318 True ENSG00000164880 ENSG00000164880 HGNC:24555 KANSL1 gene KANSL1 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KDVS;Koolen-De Vries syndrome, 610443 20301783;22544363 False 1 0;0;0 0.318 False ENSG00000120071 ENSG00000120071 HGNC:24565 KIF22 gene KIF22 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SEMDJL2;Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 22653704 False 1 0;0;0 0.318 False ENSG00000079616 ENSG00000079616 HGNC:6391 LMX1B gene LMX1B Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nail-patella syndrome, 161200 2012138 False 1 0;0;0 0.318 False ENSG00000136944 ENSG00000136944 HGNC:6654 METTL23 gene METTL23 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 44, 615942;MRT44 24501276 False 1 0;0;0 0.318 False ENSG00000181038 ENSG00000181038 HGNC:26988 MYCN gene MYCN Expert Review Red;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cleft lip with or without cleft palate, MONDO:0016034 34590686 False 1 0;0;100 0.318 True ENSG00000134323 ENSG00000134323 HGNC:7559 NBN gene NBN Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, 251260;NBS 3857858;22373003 False 1 0;0;0 0.318 False ENSG00000104320 ENSG00000104320 HGNC:7652 NKX2-5 gene NKX2-5 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown CTHM;CONOTRUNCAL HEART MALFORMATIONS 22155005 False 1 0;0;0 0.318 False ENSG00000183072 ENSG00000183072 HGNC:2488 NKX2-6 gene NKX2-6 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown CTHM;CONOTRUNCAL HEART MALFORMATIONS False 1 0;0;0 0.318 False ENSG00000180053 ENSG00000180053 HGNC:32940 NSDHL gene NSDHL Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS False 1 0;0;0 0.318 False ENSG00000147383 ENSG00000147383 HGNC:13398 PGAP2 gene PGAP2 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3;HPMRS3 False 1 0;0;0 0.318 False ENSG00000148985 ENSG00000148985 HGNC:17893 PIGA gene PIGA Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females MCAHS2;MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 22305531;22514539 False 1 0;0;0 0.318 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGL gene PIGL Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal CHIME;COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME 28371479 False 1 0;0;0 0.318 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIK3R2 gene PIK3R2 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MPPH1;MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 False 1 0;0;0 0.318 False ENSG00000105647 ENSG00000105647 HGNC:8980 POMT1 gene POMT1 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 12369018 False 1 0;0;0 0.318 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 15894594 False 1 0;0;0 0.318 False ENSG00000009830 ENSG00000009830 HGNC:19743 PQBP1 gene PQBP1 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, 309500 7943045 False 1 0;0;0 0.318 False ENSG00000102103 ENSG00000102103 HGNC:9330 PSAT1 gene PSAT1 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2, 616038 25152457 False 1 0;0;0 0.318 False ENSG00000135069 ENSG00000135069 HGNC:19129 PTDSS1 gene PTDSS1 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown broad prominent forehead;delayed closure of the fontanelles;dental enamel hypoplasia;growth restriction;Lenz-Majewski hyperostotic dwarfism, 151050;choanal atresia;proximal symphalangism cutis laxa;progressive sclerosis and hyperostosis of skull, vertebra and tubular bones;brachydactyly of fingers and toes 25363158;15194948;26117586;24241535 False 1 0;0;0 0.318 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 RAI1 gene RAI1 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SMS;SMITH-MAGENIS SYNDROME False 1 0;0;0 0.318 False ENSG00000108557 ENSG00000108557 HGNC:9834 RBM8A gene RBM8A Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal TAR;THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME False 1 0;0;0 0.318 False ENSG00000131795 ENSG00000265241 HGNC:9905 RPS17 gene RPS17 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DIAMOND-BLACKFAN ANEMIA 4;DBA4 False 1 0;0;0 0.318 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DBA1;DIAMOND-BLACKFAN ANEMIA 1 False 1 0;0;0 0.318 False ENSG00000105372 ENSG00000105372 HGNC:10402 RYR1 gene RYR1 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal RYR1-related myopathy - MONDO:0100150 23553484 False 1 0;0;100 0.318 True ENSG00000196218 ENSG00000196218 HGNC:10483 SEC24D gene SEC24D Expert Review Red;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Unknown Cleft lip with or without cleft palate, MONDO:0016034, SEC24D-related PMID:37676273 False 1 0;0;100 0.318 True ENSG00000150961 ENSG00000150961 HGNC:10706 SELENOI gene SELENOI Expert list;Expert Review Red;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 81, autosomal recessive, MIM# 618768 28052917;39806532;29500230;33454747 False 1 0;0;100 0.318 True ENSG00000138018 ENSG00000138018 HGNC:29361 SIX5 gene SIX5 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, MIM# 610896 17357085;33624842;20301554;24730701;22447252;21280147;14704431;11950062;10802667;10802668 False 1 0;0;100 0.318 True ENSG00000177045 ENSG00000177045 HGNC:10891 SMAD2 gene SMAD2 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 29967133;29392890 False 1 0;0;0 0.318 False ENSG00000175387 ENSG00000175387 HGNC:6768 SMOC1 gene SMOC1 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MLA;MICROPHTHALMIA WITH LIMB ANOMALIES False 1 0;0;0 0.318 False ENSG00000198732 ENSG00000198732 HGNC:20318 SOX2 gene SOX2 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA, SYNDROMIC 3;MCOPS3 False 1 0;0;0 0.318 False ENSG00000181449 ENSG00000181449 HGNC:11195 STIL gene STIL Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE;MCPH7 False 1 0;0;0 0.318 False ENSG00000123473 ENSG00000123473 HGNC:10879 STRA6 gene STRA6 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MCOPS9;MICROPHTHALMIA, SYNDROMIC 9 False 1 0;0;0 0.318 False ENSG00000137868 ENSG00000137868 HGNC:30650 STXBP1 gene STXBP1 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EIEE4;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 False 1 0;0;0 0.318 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUMO1 gene SUMO1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft Lip with or without Cleft Palate;Orofacial cleft 10, 613705 22492558 False 1 0;0;0 0.318 False ENSG00000116030 ENSG00000116030 HGNC:12502 TAF11 gene TAF11 Expert Review Red;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cleft lip MONDO:0004747 39727181 False 1 0;0;100 0.318 True ENSG00000064995 ENSG00000064995 HGNC:11544 TBX2 gene TBX2 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223" 29726930 False 1 0;0;100 0.318 True ENSG00000121068 ENSG00000121068 HGNC:11597 TFAP2B gene TFAP2B Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Char syndrome, MIM# 169100 False 1 0;0;100 0.318 True ENSG00000008196 ENSG00000008196 HGNC:11743 TGFB2 gene TGFB2 Expert list;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4, 614816 29392890 False 1 0;0;0 0.318 False ENSG00000092969 ENSG00000092969 HGNC:11768 TOGARAM1 gene TOGARAM1 Expert Review;Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cleft of the lip and palate;Microphthalmia;Cerebral dysgenesis;Hydrocephalus 32747439 False 1 0;0;100 0.318 True ENSG00000198718 ENSG00000198718 HGNC:19959 TSR2 gene TSR2 Expert list;Expert Review Red;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946;Cleft palate 24942156 False 1 0;0;100 0.318 True ENSG00000158526 ENSG00000158526 HGNC:25455 TWIST2 gene TWIST2 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BARBER-SAY SYNDROME;BBRSAY False 1 0;0;0 0.318 False ENSG00000233608 ENSG00000233608 HGNC:20670 UQCC2 gene UQCC2 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7;MC3DN7 24385928 False 1 0;0;0 0.318 False ENSG00000137288 ENSG00000137288 HGNC:21237 VAX1 gene VAX1 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MCOPS11;MICROPHTHALMIA, SYNDROMIC 11 22095910 False 1 0;0;0 0.318 False ENSG00000148704 ENSG00000148704 HGNC:12660 WASHC5 gene WASHC5 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal RTSC1;RITSCHER-SCHINZEL SYNDROME 1 24065355 False 1 0;0;0 0.318 False ENSG00000164961 ENSG00000164961 HGNC:28984 WNT3 gene WNT3 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE;TETAMS 14872406 False 1 0;0;0 0.318 False ENSG00000108379 ENSG00000108379 HGNC:12782 ZBTB24 gene ZBTB24 Expert Review Red Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069 23486536;32865561;21596365;29023266;32061411;21906047;28128455;23739126;22786748 False 1 0;0;100 0.318 True ENSG00000112365 ENSG00000112365 HGNC:21143 ZNF3 gene ZNF3 Expert Review Red;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hydrocephalus;cleft palate;microphthalmia 32732226 False 1 0;0;100 0.318 True ENSG00000166526 ENSG00000166526 HGNC:13089