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 DHODH gene DHODH Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Miller syndrome, MIM# 263750 Craniofacial dysostosis;HP:0004439 19915526;20220176;33262786;27370710 False 3 100;0;0 1.12 True ENSG00000102967 ENSG00000102967 HGNC:2867 EDNRA gene EDNRA Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis with alopecia, MIM# 616367 Craniofacial dysostosis;HP:0004439 25772936;27671791 False 3 100;0;0 1.12 True ENSG00000151617 ENSG00000151617 HGNC:3179 EFTUD2 gene EFTUD2 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536;Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 Craniofacial dysostosis;HP:0004439 22305528;23188108;33601405;33262786;26507355 False 3 100;0;0 1.12 True ENSG00000108883 ENSG00000108883 HGNC:30858 EIF4A3 gene EIF4A3 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Robin sequence with cleft mandible and limb anomalies, MIM# 268305;Richieri-Costa-Pereira syndrome Craniofacial dysostosis;HP:0004439 24360810 False 3 100;0;0 1.12 True ENSG00000141543 ENSG00000141543 HGNC:18683 EVC gene EVC Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Weyers acrofacial dysostosis, MIM# 193530;Ellis-van Creveld syndrome, MIM# 225500 Craniofacial dysostosis;HP:0004439 10700184;23220543 False 3 100;0;0 1.12 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM# 225500;Weyers acrofacial dysostosis, MIM# 193530 Craniofacial dysostosis;HP:0004439 16404586;19810119 False 3 100;0;0 1.12 True ENSG00000173040 ENSG00000173040 HGNC:19747 FOXI3 gene FOXI3 Expert Review Green;Literature Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dysostosis with predominant craniofacial involvement (MONDO:0800085) Craniofacial dysostosis;HP:0004439 36260083 False 3 100;0;0 1.12 True ENSG00000214336 ENSG00000214336 HGNC:35123 GNAI3 gene GNAI3 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Auriculocondylar syndrome 1, OMIM #602483 Craniofacial dysostosis;HP:0004439 22560091 False 3 100;0;0 1.12 True ENSG00000065135 ENSG00000065135 HGNC:4387 GSC gene GSC Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471 Craniofacial dysostosis;HP:0004439 24290375 False 3 100;0;0 1.12 True ENSG00000133937 ENSG00000133937 HGNC:4612 MTX2 gene MTX2 Expert Review Green;Literature Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia progeroid syndrome, MIM# 619127;Mandibuloacral dysplasia;lipodystrophy;arterial calcification Craniofacial dysostosis;HP:0004439 32917887 False 3 100;0;0 1.12 True ENSG00000128654 ENSG00000128654 HGNC:7506 MYT1 gene MYT1 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia;OAV spectrum Craniofacial dysostosis;HP:0004439 28612832;32871052;27358179 False 3 100;0;0 1.12 True ENSG00000196132 ENSG00000196132 HGNC:7622 PBX1 gene PBX1 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641 Craniofacial dysostosis;HP:0004439 28566479;29036646 False 3 100;0;0 1.12 True ENSG00000185630 ENSG00000185630 HGNC:8632 PLCB4 gene PLCB4 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Auriculocondylar syndrome 2A, MIM# 614669;Auriculocondylar syndrome 2B, MIM# 620458 Craniofacial dysostosis;HP:0004439 22560091;23315542;33131036;32201334;28328130;27007857;23913798 False 3 100;0;0 1.12 True Other ENSG00000101333 ENSG00000101333 HGNC:9059 POLR1A gene POLR1A Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis, Cincinnati type, MIM# 616462 Craniofacial dysostosis;HP:0004439 25913037 False 3 100;0;0 1.12 True ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1B gene POLR1B Expert Review Green;Literature Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher-Collins syndrome type 4 Craniofacial dysostosis;HP:0004439 31649276 False 3 100;0;0 1.12 True ENSG00000125630 ENSG00000125630 HGNC:20454 POLR1C gene POLR1C Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Treacher Collins syndrome 3, MIM# 248390 Craniofacial dysostosis;HP:0004439 21131976;30957429 False 3 100;0;0 1.12 True ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Treacher Collins syndrome 2, MIM# 613717 Craniofacial dysostosis;HP:0004439 21131976;24603435;27448281;25790162 False 3 100;0;0 1.12 True ENSG00000186184 ENSG00000186184 HGNC:20422 PRRX1 gene PRRX1 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Agnathia-otocephaly complex, MIM# 202650 Craniofacial dysostosis;HP:0004439 21294718;22211708;22674740;23444262 False 3 100;0;0 1.12 True ENSG00000116132 ENSG00000116132 HGNC:9142 RBM10 gene RBM10 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP syndrome, MIM# 311900 Craniofacial dysostosis;HP:0004439 20451169;24259342;30450804;30189253;33340101 False 3 100;0;0 1.12 True ENSG00000182872 ENSG00000182872 HGNC:9896 SF3B2 gene SF3B2 Expert Review Green;Literature Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia, MIM#164210 Craniofacial dysostosis;HP:0004439 34344887 False 3 100;0;0 1.12 True ENSG00000087365 ENSG00000087365 HGNC:10769 SF3B4 gene SF3B4 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis 1, Nager type, MIM# 154400 Craniofacial dysostosis;HP:0004439 22541558;23568615;24003905 False 3 100;0;0 1.12 True ENSG00000143368 ENSG00000143368 HGNC:10771 SNRPB gene SNRPB Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebrocostomandibular syndrome, MIM# 117650 Craniofacial dysostosis;HP:0004439 25047197;25504470;26971886 False 3 100;0;0 1.12 True ENSG00000125835 ENSG00000125835 HGNC:11153 TCOF1 gene TCOF1 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher Collins syndrome 1, MIM# 154500 Craniofacial dysostosis;HP:0004439 12444270;15150774;21951868 False 3 100;0;0 1.12 True ENSG00000070814 ENSG00000070814 HGNC:11654 TMCO1 gene TMCO1 Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980 Craniofacial dysostosis;HP:0004439 20018682;23320496;17351359;30556256;31102500 False 3 100;0;0 1.12 True ENSG00000143183 ENSG00000143183 HGNC:18188 TXNL4A gene TXNL4A Expert Review Green;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Burn-McKeown syndrome, MIM# 608572;Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Craniofacial dysostosis;HP:0004439 25434003 False 3 100;0;0 1.12 True ENSG00000141759 ENSG00000141759 HGNC:30551 VGLL2 gene VGLL2 Expert Review Green;Other Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Syngnathia, MONDO:0015409, VGLL2-related Craniofacial dysostosis;HP:0004439 False 3 100;0;0 1.12 True ENSG00000170162 ENSG00000170162 HGNC:20232 EDN1 gene EDN1 Expert Review Amber;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Auriculocondylar syndrome 3, MIM# 615706 Craniofacial dysostosis;HP:0004439 23315542;23913798;24268655 False 2 0;100;0 1.12 True ENSG00000078401 ENSG00000078401 HGNC:3176 OTX2 gene OTX2 Expert Review;Expert Review Amber Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Otocephaly-dysgnathia complex Craniofacial dysostosis;HP:0004439 24167467;25589041;31969185 False 2 0;100;0 1.12 True ENSG00000165588 ENSG00000165588 HGNC:8522 RPL11 gene RPL11 Expert Review Amber;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7, MIM# 612562;MONDO:0012938 Craniofacial dysostosis;HP:0004439 19061985 False 2 0;100;0 1.12 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL5 gene RPL5 Expert Review Amber;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 6, MIM# 612561;MONDO:0012937 Craniofacial dysostosis;HP:0004439 19061985 False 2 0;100;0 1.12 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS26 gene RPS26 Expert Review Amber;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 10, MIM# 613309;MONDO:0013217 Craniofacial dysostosis;HP:0004439 20116044;23812780;24942156 False 2 0;100;0 1.12 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS28 gene RPS28 Expert Review Amber;Victorian Clinical Genetics Services Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Craniofacial dysostosis;HP:0004439 24942156 False 2 0;100;0 1.12 True ENSG00000233927 ENSG00000233927 HGNC:10418 SHROOM3 gene SHROOM3 Expert Review Amber;Literature Mandibulofacial Acrofacial dysostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia MONDO:0015397 Craniofacial dysostosis;HP:0004439 PMID: 39875538 False 2 0;100;0 1.12 True ENSG00000138771 ENSG00000138771 HGNC:30422