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 disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRWS1;BARAITSER-WINTER SYNDROME 1 22366783 False 3 0;0;0 0.260 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BARAITSER-WINTER SYNDROME 2;BRWS2 22366783 False 3 0;0;0 0.260 False ENSG00000184009 ENSG00000184009 HGNC:144 ALX1 gene ALX1 Expert list;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 3, MIM#613456;severe facial clefting 26610632;20451171;27324866 False 3 100;0;0 0.260 True ENSG00000180318 ENSG00000180318 HGNC:1494 AMER1 gene AMER1 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders 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 0;0;0 0.260 False ENSG00000184675 ENSG00000184675 HGNC:26837 AMOTL1 gene AMOTL1 Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orofacial clefting syndrome, MONDO:0015335, AMOTL1 -related 33026150;36751037 False 3 50;0;50 0.260 True ENSG00000166025 ENSG00000166025 HGNC:17811 ANKRD11 gene ANKRD11 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome;Orofacial Clefting with skeletal features;KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism) 25838844;2705097;21782149;27900361 False 3 0;0;0 0.260 False ENSG00000167522 ENSG00000167522 HGNC:21316 ARCN1 gene ARCN1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164 27476655;35300924 False 3 100;0;0 0.260 True ENSG00000095139 ENSG00000095139 HGNC:649 ARHGAP29 gene ARHGAP29 Expert Review Green;Research;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Clefting disorder, MONDO:0000358, ARHGAP29-related 23008150;27369588;25704602;27350171;25512736;27033726;28029220 False 3 100;0;0 0.260 True ENSG00000137962 ENSG00000137962 HGNC:30207 ARHGAP31 gene ARHGAP31 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AOS1;ADAMS-OLIVER SYNDROME 1 False 3 0;0;0 0.260 False ENSG00000031081 ENSG00000031081 HGNC:29216 ASXL1 gene ASXL1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BOPS;BOHRING-OPITZ SYNDROME False 3 0;0;0 0.260 False ENSG00000171456 ENSG00000171456 HGNC:18318 B3GLCT gene B3GLCT Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal PETERS-PLUS SYNDROME False 3 0;0;0 0.260 False ENSG00000187676 ENSG00000187676 HGNC:20207 BCOR gene BCOR Expert Review Green Clefting disorders 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) MCOPS2;MICROPHTHALMIA, SYNDROMIC 2 False 3 0;0;0 0.260 False ENSG00000183337 ENSG00000183337 HGNC:20893 BMP2 gene BMP2 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877;Cleft palate 29198724;21671386 False 3 0;0;0 0.260 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMP4 gene BMP4 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial cleft 11 600625;Microphthalmia, syndromic 6, MIM# 607932 31053785;19249007;31909686 False 3 100;0;0 0.260 True ENSG00000125378 ENSG00000125378 HGNC:1071 C2CD3 gene C2CD3 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal OFD14;OROFACIODIGITAL SYNDROME XIV False 3 0;0;0 0.260 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal OFD6;OROFACIODIGITAL SYNDROME VI False 3 0;0;0 0.260 False ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Expert list;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MKS6;Meckel-Gruber syndrome;Meckel syndrome 6, 612284 18513680;19777577 False 3 0;0;0 0.260 False ENSG00000048342 ENSG00000048342 HGNC:29253 CDH1 gene CDH1 Expert Review Green;Other Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharocheilodontic syndrome 1, MIM# 119580 27566442;28301459 False 3 100;0;0 0.260 True ENSG00000039068 ENSG00000039068 HGNC:1748 CDKN1C gene CDKN1C Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) BECKWITH-WIEDEMANN SYNDROME;BWS 20503313 False 3 0;0;0 0.260 False ENSG00000129757 ENSG00000129757 HGNC:1786 CHD7 gene CHD7 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE SYNDROME False 3 0;0;0 0.260 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHRNG gene CHRNG Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE;MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE;Multiple pterygium syndrome, lethal type, 253290;Escobar syndrome, 265000 16826520;22167768;27843868 False 3 0;0;0 0.260 False ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1;EDSMC1 False 3 0;0;0 0.260 False ENSG00000169105 ENSG00000169105 HGNC:24464 CNTNAP1 gene CNTNAP1 Expert Review;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy, congenital, 3, OMIM:618186 28374019;29511323;29882456;37010288 False 3 100;0;0 0.260 True ENSG00000108797 ENSG00000108797 HGNC:8011 COL11A1 gene COL11A1 Eligibility statement prior genetic testing;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orofacial Clefting with skeletal features;Stickler Syndrome;Cleft palate False 3 0;0;0 0.260 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 disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleft palate;OSMED;STL3;Stickler syndrome, type III;Non-ocular Stickler syndrome;STICKLER SYNDROME, NONOCULAR TYPE False 3 0;0;0 0.260 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL2A1 gene COL2A1 Eligibility statement prior genetic testing;Expert Review Green;UKGTN;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown STL1;Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss);Stickler sydrome, type I, non syndromic ocular;Cleft palate;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM;STICKLER SYNDROME, TYPE I;Orofacial Clefting with skeletal features;Stickler Syndrome;STICKLER SYNDROME, TYPE I (STL1), 108300;STICKLER SYNDROME, VITREOUS TYPE 1 16752401;17721977;1677770 False 3 0;0;0 0.260 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL9A1 gene COL9A1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Autosomal recessive Stickler syndrome;Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms;Orofacial Clefting with skeletal features;Cleft palate 16909383;21421862 False 3 0;0;0 0.260 False ENSG00000112280 ENSG00000112280 HGNC:2217 COLEC10 gene COLEC10 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal 3MC SYNDROME 3;3MC3 21258343 False 3 0;0;0 0.260 False ENSG00000184374 ENSG00000184374 HGNC:2220 COLEC11 gene COLEC11 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal 3MC2;3MC SYNDROME 2 False 3 0;0;0 0.260 False ENSG00000118004 ENSG00000118004 HGNC:17213 CREBBP gene CREBBP Expert Review;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Menke-Hennekam syndrome 1, MIM# 618332 35626936 False 3 100;0;0 0.260 True ENSG00000005339 ENSG00000005339 HGNC:2348 CTCF gene CTCF Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 21 (MIM#615502) 23746550;31239556 False 3 100;0;0 0.260 True ENSG00000102974 ENSG00000102974 HGNC:13723 CTNND1 gene CTNND1 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blepharocheilodontic syndrome 2, MIM# 617681 28301459;32196547 False 3 100;0;0 0.260 True ENSG00000198561 ENSG00000198561 HGNC:2515 DHCR7 gene DHCR7 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SMITH-LEMLI-OPITZ SYNDROME;SLOS False 3 0;0;0 0.260 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHODH gene DHODH Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Miller syndrome, MIM# 263750 19915526;20220176;33262786;27370710 False 3 100;0;0 0.260 True ENSG00000102967 ENSG00000102967 HGNC:2867 DLL4 gene DLL4 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME False 3 0;0;0 0.260 False ENSG00000128917 ENSG00000128917 HGNC:2910 DOCK6 gene DOCK6 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ADAMS-OLIVER SYNDROME False 3 0;0;0 0.260 False ENSG00000130158 ENSG00000130158 HGNC:19189 DVL1 gene DVL1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DRS2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 False 3 0;0;0 0.260 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert Review Green;Other Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 3, 616894 26924530;29575616 False 3 0;0;0 0.260 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYNC2H1 gene DYNC2H1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY;SRTD3 False 3 0;0;0 0.260 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY;SRTD15 False 3 0;0;0 0.260 False ENSG00000138036 ENSG00000138036 HGNC:24595 EBP gene EBP Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females MEND SYNDROME;MEND False 3 0;0;0 0.260 False ENSG00000147155 ENSG00000147155 HGNC:3133 EDNRA gene EDNRA Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA;MFDA;Cleft palate False 3 0;0;0 0.260 False ENSG00000151617 ENSG00000151617 HGNC:3179 EFNB1 gene EFNB1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes Other CRANIOFRONTONASAL SYNDROME;CFNS False 3 0;0;0 0.260 False ENSG00000090776 ENSG00000090776 HGNC:3226 EFTUD2 gene EFTUD2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE;MFDGA False 3 0;0;0 0.260 False ENSG00000108883 ENSG00000108883 HGNC:30858 EIF2S3 gene EIF2S3 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females MRXSBRK;MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE False 3 0;0;0 0.260 False ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3F gene EIF3F Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "EIF3F-related neurodevelopmental disorder;Mental retardation, autosomal recessive 67, MIM# 618295" PMID: 33736665 False 3 100;0;0 0.260 True ENSG00000175390 ENSG00000175390 HGNC:3275 EIF4A3 gene EIF4A3 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Richieri-Costa-Pereira syndrome;Robin sequence with cleft mandible and limb anomalies, 268305;Cleft palate 10594883;29112243;29922329;24360810 False 3 100;0;0 0.260 True ENSG00000141543 ENSG00000141543 HGNC:18683 EOGT gene EOGT Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ADAMS-OLIVER SYNDROME False 3 0;0;0 0.260 False ENSG00000163378 ENSG00000163378 HGNC:28526 EPG5 gene EPG5 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840 23222957;26927810;20583151;3344762;17163544 False 3 0;0;0 0.260 False ENSG00000152223 ENSG00000152223 HGNC:29331 ESCO2 gene ESCO2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Juberg-Hayward syndrome, MIM# 216100;Roberts-SC phocomelia syndrome, MIM#268300 32977150 False 3 100;0;0 0.260 True ENSG00000171320 ENSG00000171320 HGNC:27230 EYA1 gene EYA1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted BOR1;BRANCHIOOTORENAL SYNDROME 1 False 3 0;0;0 0.260 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAM20C gene FAM20C Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Raine syndrome, 259775 2194867118000911;2614802;25974638;17924334;10482879 False 3 0;0;0 0.260 False ENSG00000177706 ENSG00000177706 HGNC:22140 FGD1 gene FGD1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females AARSKOG-SCOTT SYNDROME;AAS 20082460 False 3 0;0;0 0.260 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 disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kallmann syndrome 2;Hartsfield syndrome, 615465;Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 19504604;25394172;1342859;16606836;14564207;12627230 False 3 0;0;0 0.260 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown APERT SYNDROME False 3 0;0;0 0.260 False ENSG00000066468 ENSG00000066468 HGNC:3689 FLNA gene FLNA Expert Review Green;UKGTN Clefting disorders 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) OTOPALATODIGITAL SYNDROME, TYPE I;Otopalatodigital syndrome, type II, 304120 (includes clefting);Orofacial Clefting with skeletal anomalies;OPD1, OTOPALATODIGITAL SYNDROME, TYPE II;OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1;FMD1;Melnick-Needles syndrome, 309350 (includes clefting);Otopalatodigital syndrome, type I, 311300 (includes clefting) 10706363;20301567;12612583;16538226 False 3 0;0;0 0.260 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460;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;Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250;Orofacial Clefting with skeletal features;Skeletal dysplasia with midline cleft palate False 3 0;0;0 0.260 False ENSG00000136068 ENSG00000136068 HGNC:3755 FOXC2 gene FOXC2 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft palate;LYMPHEDEMA-DISTICHIASIS SYNDROME False 3 0;0;0 0.260 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXE1 gene FOXE1 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bamforth-Lazarus syndrome, OMIM #241850 9697705;12165566;16882747 False 3 100;0;0 0.260 True ENSG00000178919 ENSG00000178919 HGNC:3806 FRAS1 gene FRAS1 Expert list;Expert Review Green;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 17163535;16894541;18203166;18671281 False 3 0;0;0 0.260 False ENSG00000138759 ENSG00000138759 HGNC:19185 GDF11 gene GDF11 Expert list;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122 31215115;34113007 False 3 50;50;0 0.260 True ENSG00000135414 ENSG00000135414 HGNC:4216 GJA1 gene GJA1 Expert list;Expert Review Green;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 Oculodentodigital dysplasia,164200;ODDD 1057461;12457340;19338053;15108203 False 3 0;0;0 0.260 False ENSG00000152661 ENSG00000152661 HGNC:4274 GLI2 gene GLI2 Expert Review;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Culler-Jones syndrome, OMIM:615849;Holoprosencephaly 9, OMIM:610829 24744436;37010288 False 3 100;0;0 0.260 True ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pallister-Hall syndrome, 146510 15739154;24736735;7211952;20301638;1605268 False 3 0;0;0 0.260 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNB1 gene GNB1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 27108799;32134617 False 3 100;0;0 0.260 True ENSG00000078369 ENSG00000078369 HGNC:4396 GPC3 gene GPC3 Expert Review Green Clefting disorders 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 0;0;0 0.260 False ENSG00000147257 ENSG00000147257 HGNC:4451 GRHL3 gene GRHL3 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Van der Woude syndrome 2 MIM#606713 24360809;29500247 False 3 100;0;0 0.260 True ENSG00000158055 ENSG00000158055 HGNC:25839 HDAC8 gene HDAC8 Expert Review Green Clefting disorders 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) CDLS5;CORNELIA DE LANGE SYNDROME 5 False 3 0;0;0 0.260 False ENSG00000147099 ENSG00000147099 HGNC:13315 HNRNPK gene HNRNPK Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Au-Kline syndrome MIM#616580 False 3 100;0;0 0.260 True ENSG00000165119 ENSG00000165119 HGNC:5044 HYAL2 gene HYAL2 Expert list;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063 28081210;23172227;26515055;34906488 False 3 50;50;0 0.260 True ENSG00000068001 ENSG00000068001 HGNC:5321 HYLS1 gene HYLS1 Expert Review Green Clefting disorders 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;22029171;8322817;15843405 False 3 0;0;0 0.260 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ECO;Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate) 19185282;27069622;24853502 False 3 0;0;0 0.260 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT140 gene IFT140 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY;SRTD9 False 3 0;0;0 0.260 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SRTD10;SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY False 3 0;0;0 0.260 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT80 gene IFT80 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY;SRTD2 False 3 0;0;0 0.260 False ENSG00000068885 ENSG00000068885 HGNC:29262 IGF2 gene IGF2 Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Silver-Russell syndrome 3 MIM#616489 PMID: 31544945 False 3 100;0;0 0.260 True ENSG00000167244 ENSG00000167244 HGNC:5466 IMPAD1 gene IMPAD1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate) 22887726;21549340 False 3 0;0;0 0.260 False ENSG00000104331 ENSG00000104331 HGNC:26019 INTS13 gene INTS13 Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Oral-facial-digital syndrome, MONDO:0015375, INTS13-related PMID: 36229431 False 3 100;0;0 0.260 True ENSG00000064102 ENSG00000064102 HGNC:20174 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 disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown lip pits;Cleft palate;Orofacial cleft 6, 608864;VWS1, POPLITEAL PTERYGIUM SYNDROME;Cleft Lip with or without Cleft Palate;VAN DER WOUDE SYNDROME 1;PPS;Cleft lip +/- palate- unilateral or bilateral;Orofacial Clefting with skeletal features;cleft palate False 3 0;0;0 0.260 False ENSG00000117595 ENSG00000117595 HGNC:6121 KAT6A gene KAT6A Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 32;MRD32 False 3 0;0;0 0.260 False ENSG00000083168 ENSG00000083168 HGNC:13013 KAT6B gene KAT6B Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genitopatellar syndrome, OMIM:606170;SBBYSS syndrome, OMIM:603736 20182757;27031267;32424177;37010288 False 3 100;0;0 0.260 True ENSG00000156650 ENSG00000156650 HGNC:17582 KCNJ2 gene KCNJ2 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS;Cleft palate 12163457 False 3 0;0;0 0.260 False ENSG00000123700 ENSG00000123700 HGNC:6263 KDM6A gene KDM6A Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Clefting disorders 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 24664873;22197486;23076834 False 3 0;0;0 0.260 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0586 gene KIAA0586 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SRTD14;SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY False 3 0;0;0 0.260 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIF1BP gene KIF1BP Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal GOSHS;Goldberg-Shprintzen megacolon syndrome, 609460 16760737;7338549 False 3 0;0;0 0.260 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF7 gene KIF7 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ACLS;ACROCALLOSAL SYNDROME 21552264 False 3 0;0;0 0.260 False ENSG00000166813 ENSG00000166813 HGNC:30497 KMT2D gene KMT2D Emory Genetics Laboratory;Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, 147920 22126750;20711175;21671394;26049589;25142838 False 3 0;0;0 0.260 False ENSG00000167548 ENSG00000167548 HGNC:7133 MAP3K7 gene MAP3K7 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AD-FMD;Frontometaphyseal dysplasia 2, 617137;autosomal dominant FMD;FMD2 28498505;25899317 False 3 0;0;0 0.260 False ENSG00000135341 ENSG00000135341 HGNC:6859 MAPRE2 gene MAPRE2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2;CSCSC2 False 3 0;0;0 0.260 False ENSG00000166974 ENSG00000166974 HGNC:6891 MASP1 gene MASP1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1, MIM# 257920;MONDO:0009770 26789649;21258343;21035106 False 3 100;0;0 0.260 True ENSG00000127241 ENSG00000127241 HGNC:6901 MBTPS2 gene MBTPS2 Expert Review Green Clefting disorders 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 0;0;0 0.260 False ENSG00000012174 ENSG00000012174 HGNC:15455 MED12 gene MED12 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Opitz-Kaveggia syndrome, 305450;Lujan-Fryns syndrome, 309520;OKS;submucous cleft palate;Hardikar syndrome, MIM# 301068 12784307;33244166 False 3 100;0;0 0.260 True ENSG00000184634 ENSG00000184634 HGNC:11957 MEIS2 gene MEIS2 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual disability;cardiac defects;Orofacial clefting;Cleft palate 25712757;27225850;24678003 False 3 0;0;0 0.260 False ENSG00000134138 ENSG00000134138 HGNC:7001 MID1 gene MID1 Expert Review Green Clefting disorders 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 0;0;0 0.260 False ENSG00000101871 ENSG00000101871 HGNC:7095 MKS1 gene MKS1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 1, 249000;Meckel-Gruber Syndrome (MGS);MKS1 24643152;26037304;25182137 False 3 0;0;0 0.260 False ENSG00000011143 ENSG00000011143 HGNC:7121 MSX1 gene MSX1 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tooth agenesis, selective, 1, with or without orofacial cleft, 106600;Orofacial cleft 5, 608874;Cleft lip;CLP with dental anomalies 16498076;10742093;27228008;15264286;12097313;12807959;25565750 False 3 0;0;0 0.260 False ENSG00000163132 ENSG00000163132 HGNC:7391 MYMK gene MYMK Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, MIM# 254940 28681861 False 3 100;0;0 0.260 True 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 disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060;Zlotogora-Ogur syndrome 10932188;26953873;11559849;25913853 False 3 100;0;0 0.260 True ENSG00000110400 ENSG00000110400 HGNC:9706 NEDD4L gene NEDD4L Expert Review;Expert Review Green;Literature;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 7 (includes clefting), 617201;Cleft palate;Cleft palate, toe syndactyly, periventricular nodular heterotopia 27694961 False 3 0;0;0 0.260 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEK1 gene NEK1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520;Orofaciodigital syndrome II , MIM# 252100 21211617;22499340;25492405;28123176;27530628 False 3 100;0;0 0.260 True ENSG00000137601 ENSG00000137601 HGNC:7744 NIPBL gene NIPBL Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDLS1;CORNELIA DE LANGE SYNDROME 1 False 3 0;0;0 0.260 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOTCH1 gene NOTCH1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME False 3 0;0;0 0.260 False ENSG00000148400 ENSG00000148400 HGNC:7881 OFD1 gene OFD1 Expert Review Green Clefting disorders 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 0;0;0 0.260 False ENSG00000046651 ENSG00000046651 HGNC:2567 PAX3 gene PAX3 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WAARDENBURG False 3 0;0;0 0.260 False ENSG00000135903 ENSG00000135903 HGNC:8617 PGAP3 gene PGAP3 Expert Review;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716 28390064;37010288 False 3 100;0;0 0.260 True ENSG00000161395 ENSG00000161395 HGNC:23719 PGM1 gene PGM1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type It 614921;Cleft palate" 31563034;26303607;24878975;27206562;29858906;32681750 False 3 100;0;0 0.260 True ENSG00000079739 ENSG00000079739 HGNC:8905 PHF8 gene PHF8 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation syndrome, X-linked, Siderius type, 300263 17661819 False 3 100;0;0 0.260 True ENSG00000172943 ENSG00000172943 HGNC:20672 PIEZO2 gene PIEZO2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MWKS;DA3, MARDEN-WALKER SYNDROME;ARTHROGRYPOSIS, DISTAL, TYPE 3 24726473 False 3 0;0;0 0.260 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIGN gene PIGN Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1;MCAHS1 27038415;24852103 False 3 0;0;0 0.260 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGV gene PIGV Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1;HPMRS1 24129430;21739589 False 3 0;0;0 0.260 False ENSG00000060642 ENSG00000060642 HGNC:26031 PLCB4 gene PLCB4 Expert list;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Auriculocondylar syndrome 2A, MIM# 614669;Auriculocondylar syndrome 2B, MIM# 620458;Cleft palate 23315542;23913798 False 3 100;0;0 0.260 True Other ENSG00000101333 ENSG00000101333 HGNC:9059 POLR1A gene POLR1A Expert list;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrofacial dysostosis, Cincinnati type MIM#616462 25913037 False 3 100;0;0 0.260 True ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1C gene POLR1C Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal TREACHER COLLINS SYNDROME 3;TCS3 False 3 0;0;0 0.260 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TCS2;TREACHER COLLINS SYNDROME 2 False 3 0;0;0 0.260 False ENSG00000186184 ENSG00000186184 HGNC:20422 PORCN gene PORCN Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Clefting disorders 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) GOLTZ SYNDROME;Focal dermal hypoplasia, 305600 12071796;21484999;20301712;10602117;13948891;18325042 False 3 0;0;0 0.260 False ENSG00000102312 ENSG00000102312 HGNC:17652 PPP1R13L gene PPP1R13L Expert Review;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 32666529;28864777 False 3 100;0;0 0.260 True ENSG00000104881 ENSG00000104881 HGNC:18838 PTCH1 gene PTCH1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HPE7;BCNS, HOLOPROSENCEPHALY 7;BASAL CELL NEVUS SYNDROME False 3 0;0;0 0.260 False ENSG00000185920 ENSG00000185920 HGNC:9585 RAB34 gene RAB34 Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 PMID: 37384395 False 3 100;0;0 0.260 True ENSG00000109113 ENSG00000109113 HGNC:16519 RBM10 gene RBM10 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP syndrome, MIM# 311900 20451169;24259342;30450804;30189253;33340101 False 3 100;0;0 0.260 True ENSG00000182872 ENSG00000182872 HGNC:9896 RIC1 gene RIC1 Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft lip/palate MONDO:0016044, RIC1-related 36493769 False 3 100;0;0 0.260 True ENSG00000107036 ENSG00000107036 HGNC:17686 RIPK4 gene RIPK4 Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650 PMID: 28940926;22197489;22197488 False 3 100;0;0 0.260 True ENSG00000183421 ENSG00000183421 HGNC:496 ROR2 gene ROR2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ROBINOW SYNDROME, AUTOSOMAL RECESSIVE;RRS False 3 0;0;0 0.260 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPL5 gene RPL5 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DIAMOND-BLACKFAN ANEMIA 6;Cleft palate;DBA6 19061985 False 3 0;0;0 0.260 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS26 gene RPS26 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DBA10;DIAMOND-BLACKFAN ANEMIA 10;Cleft palate 20116044 False 3 0;0;0 0.260 False ENSG00000197728 ENSG00000197728 HGNC:10414 RSPO2 gene RSPO2 Expert list;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Tetraamelia syndrome 2, MIM# 618021;Cleft lip and palate 29769720;32457899 False 3 100;0;0 0.260 True ENSG00000147655 ENSG00000147655 HGNC:28583 SALL4 gene SALL4 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DUANE-RADIAL RAY SYNDROME;DRRS False 3 0;0;0 0.260 False ENSG00000101115 ENSG00000101115 HGNC:15924 SATB2 gene SATB2 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome, MIM# 612313;MONDO:0100147 16179223;29023086;28151491;32446642 False 3 100;0;0 0.260 True ENSG00000119042 ENSG00000119042 HGNC:21637 SCARF2 gene SCARF2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal VDEGS;VAN DEN ENDE-GUPTA SYNDROME False 3 0;0;0 0.260 False ENSG00000244486 ENSG00000244486 HGNC:19869 SF3B2 gene SF3B2 Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia, MIM#164210 34344887 False 3 100;0;0 0.260 True ENSG00000087365 ENSG00000087365 HGNC:10769 SF3B4 gene SF3B4 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACROFACIAL DYSOSTOSIS 1, NAGER TYPE;AFD1 22541558 False 3 0;0;0 0.260 False ENSG00000143368 ENSG00000143368 HGNC:10771 SHH gene SHH Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY 3;HPE3 False 3 0;0;0 0.260 False ENSG00000164690 ENSG00000164690 HGNC:10848 SIX1 gene SIX1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BOS3;BRANCHIOOTIC SYNDROME 3 False 3 0;0;0 0.260 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX3 gene SIX3 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY 2;HPE2 False 3 0;0;0 0.260 False ENSG00000138083 ENSG00000138083 HGNC:10889 SKI gene SKI Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME;SGS False 3 0;0;0 0.260 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC26A2 gene SLC26A2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal De la Chapelle dysplasia (includes clefting), 256050;DIASTROPHIC DYSPLASIA;Diastrophic dysplasia (includes clefting), 222600;Atelosteogenesis II (includes clefting), 256050;DTD;Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600;McAlister Dysplasia;Orofacial Clefting with skeletal features 12866518;25667404;8931695;8571951;10465113;18708426;15316973;11565064;7923357 False 3 0;0;0 0.260 False ENSG00000155850 ENSG00000155850 HGNC:10994 SMAD3 gene SMAD3 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME 3;LDS3 False 3 0;0;0 0.260 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYHRE SYNDROME;MYHRS False 3 0;0;0 0.260 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA4 gene SMARCA4 Expert Review;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 4, MIM# 614609 25168959;37010288 False 3 100;0;0 0.260 True ENSG00000127616 ENSG00000127616 HGNC:11100 SMC1A gene SMC1A Expert Review Green Clefting disorders 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) CDLS2;CORNELIA DE LANGE SYNDROME 2 False 3 0;0;0 0.260 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNELIA DE LANGE SYNDROME 3;CDLS3 False 3 0;0;0 0.260 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMS gene SMS Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583;Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 30237987;34177437;32838743;23805436 False 3 100;0;0 0.260 True ENSG00000102172 ENSG00000102172 HGNC:11123 SNRPB gene SNRPB Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBROCOSTOMANDIBULAR SYNDROME;CCMS;Cleft palate 25047197 False 3 0;0;0 0.260 False ENSG00000125835 ENSG00000125835 HGNC:11153 SON gene SON Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZTTK SYNDROME;ZTTKS 27545680 False 3 0;0;0 0.260 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 disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAMPOMELIC DYSPLASIA,114290;Campomelic dysplasia with autosomal sex reversal, 114290;CAMPOMELIC DYSPLASIA;Cleft palate;Cleft palate with skeletal abnormalities;Orofacial Clefting with Skeletal Features;Acampomelic campomelic dysplasia, 114290 7485151;7990924;24038782;12783851;19449405;15806394;8894698 False 3 0;0;0 0.260 False ENSG00000125398 ENSG00000125398 HGNC:11204 SPECC1L gene SPECC1L Expert Review Green;Radboud University Medical Center, Nijmegen Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GBBB2;?Facial clefting, oblique, 1, 600251;Opitz GBBB syndrome, type II (with clefting), 145410;OPITZ GBBB SYNDROME, TYPE II 8849002;21703590;25412741;1897571 False 3 0;0;0 0.260 False ENSG00000100014 ENSG00000100014 HGNC:29022 STAG2 gene STAG2 Expert Review;Expert Review Green Clefting disorders 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) Mullegama-Klein-Martinez syndrome, MIM#301022 28296084;29263825;30158690;31334757;33014403;37010288 False 3 100;0;0 0.260 True ENSG00000101972 ENSG00000101972 HGNC:11355 STAMBP gene STAMBP Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MICCAP;MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME False 3 0;0;0 0.260 False ENSG00000124356 ENSG00000124356 HGNC:16950 TBX1 gene TBX1 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Velocardiofacial syndrome, MIM# 192430;Cleft palate 29500247 False 3 100;0;0 0.260 True 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 disorders 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;Cleft palate;CPX;cleft lip;palate;CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED;sub mucous cleft 19648124;17846996;21248356;12374769;11559848;19648291;22784330;14729838 False 3 0;0;0 0.260 False ENSG00000122145 ENSG00000122145 HGNC:11600 TCOF1 gene TCOF1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted TREACHER COLLINS SYNDROME 1;TCS1 False 3 0;0;0 0.260 False ENSG00000070814 ENSG00000070814 HGNC:11654 TCTN3 gene TCTN3 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal OFD4;OROFACIODIGITAL SYNDROME IV False 3 0;0;0 0.260 False ENSG00000119977 ENSG00000119977 HGNC:24519 TELO2 gene TELO2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal YHFS;YOU-HOOVER-FONG SYNDROME False 3 0;0;0 0.260 False ENSG00000100726 ENSG00000100726 HGNC:29099 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOCULOFACIAL SYNDROME;BOFS;Cleft lip 10767004 False 3 0;0;0 0.260 False ENSG00000137203 ENSG00000137203 HGNC:11742 TGDS gene TGDS Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal CATEL-MANZKE SYNDROME;Cleft palate;CATMANS 25480037 False 3 0;0;0 0.260 False ENSG00000088451 ENSG00000088451 HGNC:20324 TGFB3 gene TGFB3 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LDS5;LOEYS-DIETZ SYNDROME 5 False 3 0;0;0 0.260 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME 1;LDS1 False 3 0;0;0 0.260 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome;Loeys-Dietz syndrome 2, 610168 12975342;15731757;16928994 False 3 0;0;0 0.260 False ENSG00000163513 ENSG00000163513 HGNC:11773 TMCO1 gene TMCO1 Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME;CFSMR;Cleft palate False 3 0;0;0 0.260 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 disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400;EEC3;Limb-mammary syndrome, 603543;AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260;EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting);ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3;Cleft lip;Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292 False 3 0;0;0 0.260 False ENSG00000073282 ENSG00000073282 HGNC:15979 TRAPPC9 gene TRAPPC9 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13;MRT13 20004764 False 3 0;0;0 0.260 False ENSG00000167632 ENSG00000167632 HGNC:30832 TRIM37 gene TRIM37 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal MULIBREY NANISM False 3 0;0;0 0.260 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRRAP gene TRRAP Expert Review;Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Developmental delay with or without dysmorphic facies and autism, MIM# 618454" 30827496 False 3 100;0;0 0.260 True ENSG00000196367 ENSG00000196367 HGNC:12347 TUBB gene TUBB Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CSCSC1;SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 False 3 0;0;0 0.260 False ENSG00000196230 ENSG00000196230 HGNC:20778 TXNL4A gene TXNL4A Expert Review Green;Victorian Clinical Genetics Services Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Burn-McKeown syndrome, MIM# 608572;Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 25434003 False 3 100;0;0 0.260 True ENSG00000141759 ENSG00000141759 HGNC:30551 USP9X gene USP9X Expert Review Green;Literature Clefting disorders 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) Intellectual developmental disorder 99 MIM#300919;syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 26833328 False 3 100;0;0 0.260 True ENSG00000124486 ENSG00000124486 HGNC:12632 WNT5A gene WNT5A Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DRS1;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 False 3 0;0;0 0.260 False ENSG00000114251 ENSG00000114251 HGNC:12784 XYLT1 gene XYLT1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal DESBUQUOIS DYSPLASIA 2;DBQD2 False 3 0;0;0 0.260 False ENSG00000103489 ENSG00000103489 HGNC:15516 YAP1 gene YAP1 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433 24462371;27267789;28801591 False 3 100;0;0 0.260 True ENSG00000137693 ENSG00000137693 HGNC:16262 ZC4H2 gene ZC4H2 Expert Review;Expert Review Green Clefting disorders 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) Wieacker-Wolff syndrome, MIM# 314580 31206972;37010288 False 3 100;0;0 0.260 True ENSG00000126970 ENSG00000126970 HGNC:24931 ZEB2 gene ZEB2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341 29300384;27831545;24715670;19215041;17958891 False 3 100;0;0 0.260 True ENSG00000169554 ENSG00000169554 HGNC:14881 ZIC2 gene ZIC2 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HOLOPROSENCEPHALY 5;HPE5 19955556 False 3 0;0;0 0.260 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 Expert Review Green Clefting disorders 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 0;0;0 0.260 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZRSR2 gene ZRSR2 Expert Review Green;Literature Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, MIM# 301132 PMID: 38158857 False 3 100;0;0 0.260 True ENSG00000169249 ENSG00000169249 HGNC:23019 ZSWIM6 gene ZSWIM6 Expert Review Green Clefting disorders Dysmorphic disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AFND;ACROMELIC FRONTONASAL DYSOSTOSIS 25105228 False 3 0;0;0 0.260 False ENSG00000130449 ENSG00000130449 HGNC:29316