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 ACVR1 gene ACVR1 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva 135100 Limb abnormality;HP:0040064 30071989;19085907;26776312;18684712;23572558;20463014 False 3 100;0;0 0.88 True ENSG00000115170 ENSG00000115170 HGNC:171 ADAMTS10 gene ADAMTS10 Expert list;Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive, 277600 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome type 4 Limb abnormality;HP:0040064 False 3 0;0;100 0.88 False ENSG00000140470 ENSG00000140470 HGNC:17109 AFF4 gene AFF4 Expert list;Expert Review Green;Expert Review Green;Other;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHOPS syndrome MIM#616368 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000072364 ENSG00000072364 HGNC:17869 AHI1 gene AHI1 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 3, MIM# 608629" Limb abnormality;HP:0040064 False 3 0;0;0 0.88 True ENSG00000135541 ENSG00000135541 HGNC:21575 AKT3 gene AKT3 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937" Limb abnormality;HP:0040064 False 3 0;0;0 0.88 True ENSG00000117020 ENSG00000117020 HGNC:393 ANKRD11 gene ANKRD11 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome 148050 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000167522 ENSG00000167522 HGNC:21316 ARHGAP31 gene ARHGAP31 Expert Review Green;Expert list;Genetic Health Queensland;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 1 100300 Limb abnormality;HP:0040064 21565291;24668619;29924900 False 3 50;50;0 0.88 True ENSG00000031081 ENSG00000031081 HGNC:29216 ARID1A gene ARID1A Expert list;Expert Review Green;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert list;Expert Review Green;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome type 1 - 135900 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARL6 gene ARL6 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 Limb abnormality;HP:0040064 15258860;32361989;31888296;25402481 False 3 100;0;0 0.88 True ENSG00000113966 ENSG00000113966 HGNC:13210 B3GLCT gene B3GLCT Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Peters-plus syndrome 261540 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000187676 ENSG00000187676 HGNC:20207 B9D2 gene B9D2 Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, MIM#614175;Meckel syndrome 10, MIM#614175 Limb abnormality;HP:0040064 26092869;21763481 False 3 100;0;0 0.88 True ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Bardet-Biedl syndrome 1, MIM# 209900" Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433 Limb abnormality;HP:0040064 12016587;11381270 False 3 100;0;0 0.88 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 Limb abnormality;HP:0040064 19252258;15137946;10053027;15637713 False 3 100;0;0 0.88 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 Limb abnormality;HP:0040064 12567324;21937992;19797195 False 3 100;0;0 0.88 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437 Limb abnormality;HP:0040064 16380913;22353939;32686083;32037757 False 3 100;0;0 0.88 True ENSG00000122507 ENSG00000122507 HGNC:30000 BHLHA9 gene BHLHA9 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432 Limb abnormality;HP:0040064 25466284;34272776;31912643;31152918;30107244 False 3 100;0;0 0.88 True ENSG00000205899 ENSG00000205899 HGNC:35126 BMP2 gene BMP2 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type A2 112600;short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877. Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMP4 gene BMP4 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000125378 ENSG00000125378 HGNC:1071 BMPR1B gene BMPR1B Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acromesomelic dysplasia, Demirhan type 609441;Brachydactyly, type A1, D 616849;Brachydactyly, type A2 112600 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000138696 ENSG00000138696 HGNC:1077 BRCA2 gene BRCA2 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D1, MIM# 605724 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group J, MIM# 609054 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000136492 ENSG00000136492 HGNC:20473 C2CD3 gene C2CD3 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM# 614615;MONDO:0013824;Orofaciodigital syndrome VI, MIM# 277170 Limb abnormality;HP:0040064 22425360;24178751 False 3 100;0;0 0.88 True ENSG00000197603 ENSG00000197603 HGNC:25801 CACNA1C gene CACNA1C Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Timothy syndrome MIM#601005 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000151067 ENSG00000151067 HGNC:1390 CC2D2A gene CC2D2A Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCND2 gene CCND2 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000118971 ENSG00000118971 HGNC:1583 CDH3 gene CDH3 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000062038 ENSG00000062038 HGNC:1762 CENPF gene CENPF Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP120 gene CEP120 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Limb abnormality;HP:0040064 25361962;27208211 False 3 100;0;0 0.88 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP164 gene CEP164 Expert Review Green;Expert list;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome;Nephronophthisis 15, MIM# 614845;Oro-facio-digital syndrome Limb abnormality;HP:0040064 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 0.88 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000106477 ENSG00000106477 HGNC:12370 CHSY1 gene CHSY1 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000131873 ENSG00000131873 HGNC:17198 CKAP2L gene CKAP2L Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000169607 ENSG00000169607 HGNC:26877 CREBBP gene CREBBP Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 180849 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000005339 ENSG00000005339 HGNC:2348 CSPP1 gene CSPP1 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 Limb abnormality;HP:0040064 24360808;24360803;24360807;25997910 False 3 100;0;0 0.88 True ENSG00000104218 ENSG00000104218 HGNC:26193 DDX59 gene DDX59 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V (MIM#174300) Limb abnormality;HP:0040064 29127725;23972372;28711741 False 3 100;0;0 0.88 True ENSG00000118197 ENSG00000118197 HGNC:25360 DHCR7 gene DHCR7 Expert list;Expert Review Green;Expert Review Green;NHS GMS;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHCR7 gene DHCR7 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome - MIM#270400 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000172893 ENSG00000172893 HGNC:2860 DHODH gene DHODH Expert list;Expert Review Green;Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Miller syndrome (postaxial acrofacial dysostosis) 263750 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000102967 ENSG00000102967 HGNC:2867 DLL4 gene DLL4 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 6, 616589 Limb abnormality;HP:0040064 26299364;33899511;31261205;29924900 False 3 100;0;0 0.88 True ENSG00000128917 ENSG00000128917 HGNC:2910 DLX5 gene DLX5 Expert list;Expert Review Green;Expert Review Green;Expert list;NHS GMS Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000105880 ENSG00000105880 HGNC:2918 DOCK6 gene DOCK6 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2 614219 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000130158 ENSG00000130158 HGNC:19189 DPF2 gene DPF2 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 7 MIM#618027 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000133884 ENSG00000133884 HGNC:9964 DVL1 gene DVL1 Expert list;Expert Review Green;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;NHS GMS;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Robinow syndrome, autosomal dominant 2, MIM# 616331 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 3, 616894 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYNC1I1 gene DYNC1I1 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related Limb abnormality;HP:0040064 22914741;25231166;32219838 False 3 100;0;0 0.88 True ENSG00000158560 ENSG00000158560 HGNC:2963 DYNC2H1 gene DYNC2H1 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091;MONDO:0013127 Limb abnormality;HP:0040064 19442771;19361615;22499340;23456818;27925158 False 3 100;0;0 0.88 True ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088) Limb abnormality;HP:0040064 33030252 False 3 100;0;0 0.88 True ENSG00000138036 ENSG00000138036 HGNC:24595 EBP gene EBP Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel 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) Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000147155 ENSG00000147155 HGNC:3133 EOGT gene EOGT Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Adams Oliver syndrome 4 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000163378 ENSG00000163378 HGNC:28526 EP300 gene EP300 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 180849 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000100393 ENSG00000100393 HGNC:3373 ERCC4 gene ERCC4 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi aanemia, complementation group Q, MIM# 615272;MONDO:0014108 Limb abnormality;HP:0040064 23623386;8797827;23623389;17183314;29105242 False 3 100;0;0 0.88 True ENSG00000175595 ENSG00000175595 HGNC:3436 ESCO2 gene ESCO2 Expert Review Green;NHS GMS Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Roberts syndrome 268300;SC phocomelia syndrome 269000;Juberg-Hayward syndrome, MIM# 216100 Limb abnormality;HP:0040064 19574259;16380922;32977150 False 3 100;0;0 0.88 True ENSG00000171320 ENSG00000171320 HGNC:27230 ESCO2 gene ESCO2 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SC phocomelia syndrome 269000;Roberts syndrome 268300 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000171320 ENSG00000171320 HGNC:27230 EVC gene EVC Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000173040 ENSG00000173040 HGNC:19747 FAM58A gene FAM58A Expert list;Expert Review Green Limb and Digital Malformations SuperPanel 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) STAR syndrome 300707 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False - ENSG00000262919 HGNC:28434 FANCA gene FANCA Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 Limb abnormality;HP:0040064 10094191 False 3 100;0;0 0.88 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM# 300514;MONDO:0010351 Limb abnormality;HP:0040064 15502827 False 3 100;0;0 0.88 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group C, MIM# 227645;MONDO:0009213 Limb abnormality;HP:0040064 31044565;30792206;28717661 False 3 100;0;0 0.88 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM# 227646;MONDO:0009214 Limb abnormality;HP:0040064 17436244 False 3 100;0;0 0.88 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM# 600901;MONDO:0010953 Limb abnormality;HP:0040064 11001585;31586946;7662964;9382107;9147877;10205272 False 3 100;0;0 0.88 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F 603467;MONDO:0011325 Limb abnormality;HP:0040064 10615118;31288759 False 3 100;0;0 0.88 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group G, MIM# 614082;MONDO:0013565 Limb abnormality;HP:0040064 9806548;12552564 False 3 100;0;0 0.88 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, MIM# 609053;MONDO:0012186 Limb abnormality;HP:0040064 17452773 False 3 100;0;0 0.88 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, MIM# 614083;MONDO:0013566 Limb abnormality;HP:0040064 19405097;25754594;33394227;33224012 False 3 100;0;0 0.88 True ENSG00000115392 ENSG00000115392 HGNC:20748 FAT1 gene FAT1 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal facial dysmorphism;colobomatous microphthalmia;ptosis;syndactyly with or without nephropathy Limb abnormality;HP:0040064 30862798 False 3 100;0;0 0.88 True ENSG00000083857 ENSG00000083857 HGNC:3595 FBN1 gene FBN1 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome 154700;Weill-Marchesani syndrome 2, dominant 608328;Stiff skin syndrome 184900;Acromicric dysplasia 102370;Geleophysic dysplasia 2 614185 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000166147 ENSG00000166147 HGNC:3603 FGF10 gene FGF10 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF10 gene FGF10 Expert Review Green;NHS GMS Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lacrimoauriculodentodigital syndrome (149730);Aplasia of lacrimal and salivary glands (180920) Limb abnormality;HP:0040064 PMID: 15654336;16501574;16630169;17682060 False 3 100;0;0 0.88 True ENSG00000070193 ENSG00000070193 HGNC:3666 FGF9 gene FGF9 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple synostoses syndrome type 3 612961 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000102678 ENSG00000102678 HGNC:3687 FGFR1 gene FGFR1 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR2 gene FGFR2 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000068078 ENSG00000068078 HGNC:3690 FGFR3 gene FGFR3 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000068078 ENSG00000068078 HGNC:3690 FIG4 gene FIG4 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Yunis-Varon syndrome 216340;Amyotrophic lateral sclerosis 11 612577 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000112367 ENSG00000112367 HGNC:16873 FIG4 gene FIG4 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Yunis-Varon syndrome, MIM# 216340" Limb abnormality;HP:0040064 23623387 False 3 100;0;0 0.88 True ENSG00000112367 ENSG00000112367 HGNC:16873 FLNA gene FLNA Expert list;Expert Review Green Limb and Digital Malformations SuperPanel 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) Osteodysplasty Melnick Needles 309350 XLD;Otopalatodigital syndrome, type II 304120 XLD;Frontometaphyseal dysplasia 305620;Terminal osseous dysplasia 300244;Otopalatodigital syndrome, type I -311300 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNA gene FLNA Expert Review Green;Expert list Limb and Digital Malformations SuperPanel 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) Melnick-Needles syndrome, 309350 Limb abnormality;HP:0040064 12612583 False 3 100;0;0 0.88 True ENSG00000196924 ENSG00000196924 HGNC:3754 FLVCR1 gene FLVCR1 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, FLVCR1-related Limb abnormality;HP:0040064 39306721 False 3 100;0;0 0.88 True ENSG00000162769 ENSG00000162769 HGNC:24682 FRAS1 gene FRAS1 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM2 gene FREM2 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000150893 ENSG00000150893 HGNC:25396 FZD2 gene FZD2 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant omodysplasia 164745;Autosomal dominant omodysplasia type 2 164745 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000180340 ENSG00000180340 HGNC:4040 GDF5 gene GDF5 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type A1, C, MIM# 615072;Brachydactyly, type A2 MIM#112600;Brachydactyly, type C, MIM# 113100;Symphalangism, proximal, 1B, MIM# 615298 Limb abnormality;HP:0040064 9288091;16127465;12567410 False 3 100;0;0 0.88 True ENSG00000125965 ENSG00000125965 HGNC:4220 GDF5 gene GDF5 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000125965 ENSG00000125965 HGNC:4220 GDF6 gene GDF6 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple synostoses syndrome type 4 - 617898.;Klippel-Feil syndrome 1, autosomal dominant 118100 Limb abnormality;HP:0040064 False 3 50;0;50 0.88 False ENSG00000156466 ENSG00000156466 HGNC:4221 GJA1 gene GJA1 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoplastic left heart syndrome 1 241550;Syndactyly, type III 186100;Oculodentodigital dysplasia 164200;Palmoplantar keratoderma with congenital alopecia 104100;Craniometaphyseal dysplasia, autosomal recessive 218400;Erythrokeratodermia variabilis et progressiva 133200;Oculodentodigital dysplasia, autosomal recessive 257850 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000152661 ENSG00000152661 HGNC:4274 GLI1 gene GLI1 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polydactyly, postaxial, type A8 MIM#618123;Polydactyly, preaxial I MIM#174400 Limb abnormality;HP:0040064 34721536;31621941;31549748;30620395 False 3 100;0;0 0.88 True ENSG00000111087 ENSG00000111087 HGNC:4317 GLI2 gene GLI2 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome, MIM# 175700;Pallister-Hall syndrome, MIM# 146510;Polydactyly, postaxial, types A1 and B, MIM# 174200;Polydactyly, preaxial, type IV, MIM# 174700 Limb abnormality;HP:0040064 32591344 False 3 100;0;0 0.88 True ENSG00000106571 ENSG00000106571 HGNC:4319 GNAS gene GNAS Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) McCune-Albright syndrome, somatic, mosaic 174800;ACTH-independent macronodular adrenal hyperplasia 219080 IC;Osseous heteroplasia, progressive 166350;Pseudohypoparathyroidism Ic 612462;Pseudopseudohypoparathyroidism 612463;Pseudohypoparathyroidism Ia 103580;Pseudohypoparathyroidism Ib 603233 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000087460 ENSG00000087460 HGNC:4392 GPC3 gene GPC3 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000147257 ENSG00000147257 HGNC:4451 GRIP1 gene GRIP1 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000155974 ENSG00000155974 HGNC:18708 GSC gene GSC Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000133937 ENSG00000133937 HGNC:4612 HDAC8 gene HDAC8 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel 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) Wilson-Turner syndrome 309585;Cornelia de Lange syndrome 5 300882 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000147099 ENSG00000147099 HGNC:13315 HDAC8 gene HDAC8 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Cornelia de Lange syndrome 5, MIM# 300882" Limb abnormality;HP:0040064 30614194;24403048 False 3 100;0;0 0.88 True ENSG00000147099 ENSG00000147099 HGNC:13315 HMGB1 gene HMGB1 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 Limb abnormality;HP:0040064 34159400;36755093 False 3 100;0;0 0.88 True ENSG00000189403 ENSG00000189403 HGNC:4983 HNRNPK gene HNRNPK Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000165119 ENSG00000165119 HGNC:5044 HOXA13 gene HOXA13 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-uterus syndrome, MIM# 140000 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000106031 ENSG00000106031 HGNC:5102 HOXA13 gene HOXA13 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000106031 ENSG00000106031 HGNC:5102 HOXD13 gene HOXD13 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200;Syndactyly, type V, MIM# 186300;Synpolydactyly 1, MIM# 186000;Brachydactyly-syndactyly syndrome, MIM# 610713 Limb abnormality;HP:0040064 12649808;17236141;34777468;32509852 False 3 100;0;0 0.88 True ENSG00000128714 ENSG00000128714 HGNC:5136 HOXD13 gene HOXD13 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Synpolydactyly 1, MIM# 186000" Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000128714 ENSG00000128714 HGNC:5136 ICK gene ICK Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, MIM# 612651 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000112144 ENSG00000112144 HGNC:21219 IFT140 gene IFT140 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 Limb abnormality;HP:0040064 22503633;23418020;28288023;28724397 False 3 100;0;0 0.88 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;Expert list;Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102 Limb abnormality;HP:0040064 26880018;27466190;30242358;31042281 False 3 100;0;0 0.88 True ENSG00000101052 ENSG00000101052 HGNC:15901 IFT80 gene IFT80 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000068885 ENSG00000068885 HGNC:29262 IHH gene IHH Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type A1 112500;Acrocapitofemoral dysplasia 607778 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000163501 ENSG00000163501 HGNC:5956 INPP5E gene INPP5E Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000148384 ENSG00000148384 HGNC:21474 IQCE gene IQCE Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Postaxial polydactyly Limb abnormality;HP:0040064 31549751;28488682 False 3 100;0;0 0.88 True ENSG00000106012 ENSG00000106012 HGNC:29171 KDM6A gene KDM6A Expert Review Green;Expert list Limb and Digital Malformations SuperPanel 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 MIM#300867 Limb abnormality;HP:0040064 33674768 False 3 100;0;0 0.88 True ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0586 gene KIAA0586 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0825 gene KIAA0825 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Polydactyly, postaxial, type A10, MIM# 618498" Limb abnormality;HP:0040064 32147526;30982135 False 3 100;0;0 0.88 True ENSG00000185261 ENSG00000185261 HGNC:28532 KIF7 gene KIF7 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000166813 ENSG00000166813 HGNC:30497 KMT2A gene KMT2A Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome MIM#605130 Limb abnormality;HP:0040064 22795537;24886118 False 3 100;0;0 0.88 True ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2D gene KMT2D Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kabuki syndrome 1 - 147920 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000167548 ENSG00000167548 HGNC:7133 LBR gene LBR Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Greenberg skeletal dysplasia, MIM# 215140" Limb abnormality;HP:0040064 False 3 0;0;0 0.88 True ENSG00000143815 ENSG00000143815 HGNC:6518 LEF1 gene LEF1 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, LEF1-related Limb abnormality;HP:0040064 35583550 False 3 100;0;0 0.88 True ENSG00000138795 ENSG00000138795 HGNC:6551 LEF1 gene LEF1 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, LEF1-related Limb abnormality;HP:0040064 35583550 False 3 100;0;0 0.88 True ENSG00000138795 ENSG00000138795 HGNC:6551 LMBR1 gene LMBR1 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Laurin-Sandrow syndrome, MIM# 135750" Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000105983 ENSG00000105983 HGNC:13243 LMBR1 gene LMBR1 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Polydactyly, preaxial type II, MIM# 174500" Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000105983 ENSG00000105983 HGNC:13243 LRP4 gene LRP4 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sclerosteosis 2 614305;Cenani-Lenz syndactyly syndrome 212780 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000134569 ENSG00000134569 HGNC:6696 LTBP3 gene LTBP3 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Geleophysic dysplasia 3 617809;Dental anomalies and short stature 610216 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000168056 ENSG00000168056 HGNC:6716 LZTFL1 gene LZTFL1 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAP3K20 gene MAP3K20 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Split-foot malformation with mesoaxial polydactyly MIM#616890 Limb abnormality;HP:0040064 26755636;32266845 False 3 100;0;0 0.88 True ENSG00000091436 ENSG00000091436 HGNC:17797 MAPKAPK5 gene MAPKAPK5 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurocardiofaciodigital syndrome, MIM# 619869 Limb abnormality;HP:0040064 33442026 False 3 100;0;0 0.88 True ENSG00000089022 ENSG00000089022 HGNC:6889 MAX gene MAX Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly-macrocephaly syndrome, MIM# 620712 Limb abnormality;HP:0040064 38141607 False 3 100;0;0 0.88 True ENSG00000125952 ENSG00000125952 HGNC:6913 MBTPS2 gene MBTPS2 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000012174 ENSG00000012174 HGNC:15455 MECOM gene MECOM Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738;Radioulnar synostosis without hematological aberration, no OMIM # Limb abnormality;HP:0040064 PMID: 35219593, 26581901, 29519864 False 3 100;0;0 0.88 True ENSG00000085276 ENSG00000085276 HGNC:3498 MEGF8 gene MEGF8 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000105429 ENSG00000105429 HGNC:3233 MGP gene MGP Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Keutel syndrome 245150 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000111341 ENSG00000111341 HGNC:7060 MKKS gene MKKS Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000011143 ENSG00000011143 HGNC:7121 MYCN gene MYCN Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polydactyly syndrome, MIM# 620748;Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000134323 ENSG00000134323 HGNC:7559 MYCN gene MYCN Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polydactyly syndrome, MIM# 620748 Limb abnormality;HP:0040064 PMID:37710961 False 3 100;0;0 0.88 True Other ENSG00000134323 ENSG00000134323 HGNC:7559 NECTIN1 gene NECTIN1 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000110400 ENSG00000110400 HGNC:9706 NECTIN4 gene NECTIN4 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia-syndactyly syndrome 1 MIM#613573 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000143217 ENSG00000143217 HGNC:19688 NEK1 gene NEK1 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Limb abnormality;HP:0040064 21211617;22499340 False 3 100;0;0 0.88 True ENSG00000137601 ENSG00000137601 HGNC:7744 NIPBL gene NIPBL Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1 122470 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000164190 ENSG00000164190 HGNC:28862 NIPBL gene NIPBL Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cornelia de Lange syndrome 1, MIM# 122470" Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000164190 ENSG00000164190 HGNC:28862 NOG gene NOG Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stapes ankylosis with broad thumb and toes 184460;Symphalangism, proximal, 1A 185800;Multiple synostoses syndrome 1 186500;Tarsal-carpal coalition syndrome 186570;Brachydactyly, type B2 611377 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000183691 ENSG00000183691 HGNC:7866 NOTCH1 gene NOTCH1 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Limb, scalp and skull defects;AOS;Adams-Oliver syndrome 5, 616028;Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly) Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000148400 ENSG00000148400 HGNC:7881 NPHP3 gene NPHP3 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPM1 gene NPM1 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown radial ray defects;short stature;nail dsytrophy;bone marrow failure Limb abnormality;HP:0040064 31570891 False 3 100;0;0 0.88 True ENSG00000181163 ENSG00000181163 HGNC:7910 NSDHL gene NSDHL Expert list;Expert Review Green;Expert Review Green;NHS GMS Limb and Digital Malformations SuperPanel 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) CK syndrome 300831;Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000147383 ENSG00000147383 HGNC:13398 NXN gene NXN Expert Review Green;Expert list;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 2 MIM#618529 Limb abnormality;HP:0040064 29276006 False 3 100;0;0 0.88 True ENSG00000167693 ENSG00000167693 HGNC:18008 OFD1 gene OFD1 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel 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) Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000046651 ENSG00000046651 HGNC:2567 PALB2 gene PALB2 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group N, MIM# 610832 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000083093 ENSG00000083093 HGNC:26144 PDE3A gene PDE3A Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, 112410 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000172572 ENSG00000172572 HGNC:8778 PDE4D gene PDE4D Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 2, with or without hormone resistance 614613 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000113448 ENSG00000113448 HGNC:8783 PGM3 gene PGM3 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 615816 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHF6 gene PHF6 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel 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) Borjeson-Forssman-Lehmann syndrome MIM#301900 Limb abnormality;HP:0040064 19161141;24092917;12415272 False 3 100;0;0 0.88 True ENSG00000156531 ENSG00000156531 HGNC:18145 PIGV gene PIGV Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1 239300 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIK3CA gene PIK3CA Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes Other Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 True ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000105647 ENSG00000105647 HGNC:8980 PITX1 gene PITX1 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000069011 ENSG00000069011 HGNC:9004 POLR1A gene POLR1A Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis, Cincinnati type 616462 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000068654 ENSG00000068654 HGNC:17264 PORCN gene PORCN Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel 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) Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000102312 ENSG00000102312 HGNC:17652 PRKACA gene PRKACA Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardioacrofacial dysplasia 1, MIM# 619142;Postaxial hand polydactyly;Postaxial foot polydactyly;Common atrium;Atrioventricular canal defect;Narrow chest;Abnormality of the teeth;Intellectual disability Limb abnormality;HP:0040064 33058759;31130284 False 3 100;0;0 0.88 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000072062 ENSG00000072062 HGNC:9380 PRKACB gene PRKACB Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardioacrofacial dysplasia 2, MIM# 619143;Postaxial hand polydactyly;Postaxial foot polydactyly;Common atrium;Atrioventricular canal defect;Narrow chest;Abnormality of the teeth;Intellectual disability Limb abnormality;HP:0040064 33058759 False 3 100;0;0 0.88 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142875 ENSG00000142875 HGNC:9381 PRKAR1A gene PRKAR1A Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myxoma, intracardiac 255960;Acrodysostosis 1, with or without hormone resistance 101800;Pigmented nodular adrenocortical disease, primary, 1 610489 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000108946 ENSG00000108946 HGNC:9388 PRMT7 gene PRMT7 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000132600 ENSG00000132600 HGNC:25557 PTDSS1 gene PTDSS1 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lenz-Majewski hyperostotic dwarfism 151050 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000156471 ENSG00000156471 HGNC:9587 PTHLH gene PTHLH Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type E2 613382 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000087494 ENSG00000087494 HGNC:9607 RAB23 gene RAB23 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAB34 gene RAB34 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 Limb abnormality;HP:0040064 37619988;37384395 False 3 100;0;0 0.88 True ENSG00000109113 ENSG00000109113 HGNC:16519 RAB34 gene RAB34 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 Limb abnormality;HP:0040064 PMID: 37384395 False 3 100;0;0 0.88 True ENSG00000109113 ENSG00000109113 HGNC:16519 RAD21 gene RAD21 Expert Review Green;Expert list;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4 614701 Limb abnormality;HP:0040064 31334757;31704779 False 3 100;0;0 0.88 True ENSG00000164754 ENSG00000164754 HGNC:9811 RAD21 gene RAD21 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4, MIM# 614701 Limb abnormality;HP:0040064 32193685 False 3 100;0;0 0.88 True ENSG00000164754 ENSG00000164754 HGNC:9811 RAD51C gene RAD51C Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, MIM# 613390 Limb abnormality;HP:0040064 29278735;20400963 False 3 100;0;0 0.88 True ENSG00000108384 ENSG00000108384 HGNC:9820 RBM10 gene RBM10 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000182872 ENSG00000182872 HGNC:9896 RBM8A gene RBM8A Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome 274000 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000131795 ENSG00000265241 HGNC:9905 RBM8A gene RBM8A Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, MIM# 274000 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000131795 ENSG00000265241 HGNC:9905 RBPJ gene RBPJ Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 3, 614814 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000168214 ENSG00000168214 HGNC:5724 RECQL4 gene RECQL4 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Baller-Gerold syndrome, MIM# 218600;RAPADILINO syndrome, MIM# 266280;Rothmund-Thomson syndrome, type 2,MIM# 268400" Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000160957 ENSG00000160957 HGNC:9949 RECQL4 gene RECQL4 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome 268400;RAPILINO syndrome 266280;Baller-Gerold syndrome 218600 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000160957 ENSG00000160957 HGNC:9949 ROR2 gene ROR2 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 268310;Brachydactyly, type B1 113000 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPGRIP1L gene RPGRIP1L Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPL11 gene RPL11 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 7, MIM# 612562;MONDO:0012938 Limb abnormality;HP:0040064 19061985 False 3 100;0;0 0.88 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 12, MIM# 615550" Limb abnormality;HP:0040064 23812780;29599205 False 3 100;0;0 0.88 True ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 11, MIM# 614900 Limb abnormality;HP:0040064 22431104;39268718 False 3 50;0;50 0.88 True ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 5, MIM# 612528;MONDO:0012925 Limb abnormality;HP:0040064 18535205;32241839 False 3 100;0;0 0.88 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 6, MIM# 612561;MONDO:0012937 Limb abnormality;HP:0040064 19061985 False 3 100;0;0 0.88 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 9, MIM# 613308;MONDO:0013216 Limb abnormality;HP:0040064 20116044;23718193;25946618 False 3 100;0;0 0.88 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 4, MIM# 612527;MONDO:0012924 Limb abnormality;HP:0040064 17647292;19061985;23812780;23718193 False 3 100;0;0 0.88 True ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 1, MIM# 105650;MONDO:0007110 Limb abnormality;HP:0040064 9988267;10590074 False 3 100;0;0 0.88 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-blackfan anaemia 3, MIM# 610629;MONDO:0012529 Limb abnormality;HP:0040064 17186470;23812780;25946618 False 3 100;0;0 0.88 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 10, MIM# 613309;MONDO:0013217 Limb abnormality;HP:0040064 20116044;23812780;24942156 False 3 100;0;0 0.88 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 8, MIM# 612563;MONDO:0012939 Limb abnormality;HP:0040064 19061985;23718193;27882484;32772263 False 3 100;0;0 0.88 True ENSG00000171863 ENSG00000171863 HGNC:10440 SALL1 gene SALL1 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL1 gene SALL1 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 1, MIM#107480;MONDO:0054581 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000101115 ENSG00000101115 HGNC:15924 SALL4 gene SALL4 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, MIM# 607323;MONDO:0011812;IVIC syndrome, MIM# 147750;MONDO:0007836 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000101115 ENSG00000101115 HGNC:15924 SC5D gene SC5D Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCNM1 gene SCNM1 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIX, MIM# 620107 Limb abnormality;HP:0040064 36084634 False 3 100;0;0 0.88 True ENSG00000163156 ENSG00000163156 HGNC:23136 SF3B4 gene SF3B4 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis 1, Nager type 154400 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000143368 ENSG00000143368 HGNC:10771 SF3B4 gene SF3B4 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Acrofacial dysostosis 1, Nager type, MIM# 154400" Limb abnormality;HP:0040064 22541558 False 3 100;0;0 0.88 True ENSG00000143368 ENSG00000143368 HGNC:10771 SHH gene SHH Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHOX gene SHOX Expert Review Green;Expert list Limb and Digital Malformations SuperPanel 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) Leri-Weill dyschondrosteosis, MIM# 127300;Langer mesomelic dysplasia, MIM#249700 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000185960 ENSG00000185960 HGNC:10853 SLX4 gene SLX4 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group P, MIM# 613951;MONDO:0013499 Limb abnormality;HP:0040064 21240275;21240277 False 3 100;0;0 0.88 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMAD4 gene SMAD4 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myhre syndrome 139210 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA2 gene SMARCA2 Expert Review Green;Expert list;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nicolaides-Baraitser syndrome MIM#601358 Limb abnormality;HP:0040064 26468571;32694869 False 3 100;0;0 0.88 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 4 MIM#614609 Limb abnormality;HP:0040064 22426308 False 3 100;0;0 0.88 True ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 3 MIM#614608 Limb abnormality;HP:0040064 22426308;25169878 False 3 100;0;0 0.88 True ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCE1 gene SMARCE1 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 5 MIM#616938 Limb abnormality;HP:0040064 22426308;25169878;34205270 False 3 100;0;0 0.88 True ENSG00000073584 ENSG00000073584 HGNC:11109 SMC1A gene SMC1A Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 2 300590 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC1A gene SMC1A Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Cornelia de Lange syndrome 2, MIM# 300590" Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cornelia de Lange syndrome 3, MIM# 610759" Limb abnormality;HP:0040064 25125236;25655089 False 3 100;0;0 0.88 True ENSG00000108055 ENSG00000108055 HGNC:2468 SMC3 gene SMC3 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3 610759 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMO gene SMO Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Microcephaly, congenital heart disease, polydactyly, aganglionosis;Pallister-Hall-like syndrome , MIM#241800;Curry-Jones syndrome, somatic mosaic 601707" Limb abnormality;HP:0040064 32413283;27236920 False 3 100;0;0 0.88 True ENSG00000128602 ENSG00000128602 HGNC:11119 SMOC1 gene SMOC1 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000198732 ENSG00000198732 HGNC:20318 SOST gene SOST Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Van Buchem disease 239100;Sclerosteosis 1 269500;Craniodiaphyseal dysplasia, autosomal dominant 122860 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000167941 ENSG00000167941 HGNC:13771 SOX9 gene SOX9 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Campomelic dysplasia with autosomal sex reversal 114290 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000125398 ENSG00000125398 HGNC:11204 SPINT2 gene SPINT2 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420;MONDO:0010036 Limb abnormality;HP:0040064 19185281;20009592;24142340;30445423 False 3 100;0;0 0.88 True ENSG00000167642 ENSG00000167642 HGNC:11247 TBX15 gene TBX15 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cousin syndrome 260660 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000092607 ENSG00000092607 HGNC:11594 TBX3 gene TBX3 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ulnar-mammary syndrome, MIM# 181450;MONDO:0008411 Limb abnormality;HP:0040064 9207801;19938096;28145909 False 3 100;0;0 0.88 True ENSG00000135111 ENSG00000135111 HGNC:11602 TBX3 gene TBX3 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX5 gene TBX5 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome, MIM# 142900 Limb abnormality;HP:0040064 10077612;31373354 False 3 100;0;0 0.88 True ENSG00000089225 ENSG00000089225 HGNC:11604 TBX5 gene TBX5 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000089225 ENSG00000089225 HGNC:11604 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405 Limb abnormality;HP:0040064 26044572;25830415 False 3 100;0;0 0.88 True ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN2 gene TCTN2 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482 Limb abnormality;HP:0040064 21462283;21565611;25118024;21725307;32139166;25118024;32655147;33590725 False 3 100;0;0 0.88 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000119977 ENSG00000119977 HGNC:24519 TFAP2A gene TFAP2A Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000008196 ENSG00000008196 HGNC:11743 TGDS gene TGDS Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Catel-Manzke syndrome 616145 Limb abnormality;HP:0040064 25480037 False 3 100;0;0 0.88 True ENSG00000088451 ENSG00000088451 HGNC:20324 TMEM107 gene TMEM107 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 MIM#617562;Orofaciodigital syndrome XVI MIM#617563 Limb abnormality;HP:0040064 22698544;26123494;26518474 False 3 100;0;0 0.88 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM# 614424 Limb abnormality;HP:0040064 22152675 False 3 100;0;0 0.88 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000164953 ENSG00000164953 HGNC:28396 TP63 gene TP63 Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hay-Wells syndrome 106260;Rapp-Hodgkin syndrome 129400;Limb-mammary syndrome 603543;Split-hand/foot malformation 4 605289;Orofacial cleft 8 129400;ULT syndrome 103285;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000073282 ENSG00000073282 HGNC:15979 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, MIM# 616629;MONDO:0014712 Limb abnormality;HP:0040064 26487268;18364699;21945076 False 3 100;0;0 0.88 True ENSG00000204104 ENSG00000204104 HGNC:17861 TRPS1 gene TRPS1 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trichorhinophalangeal syndrome, type III 190351;Trichorhinophalangeal syndrome, type I 190350 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV4 gene TRPV4 Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parastremmatic dwarfism 168400;Metatropic dysplasia 156530;Spinal muscular atrophy, distal, congenital nonprogressive 600175;Scapuloperoneal spinal muscular atrophy 181405;SED, Maroteaux type 184095;Spondylometaphyseal dysplasia, Kozlowski type 184252;Hereditary motor and sensory neuropathy, type IIc 606071;Brachyolmia type 3 113500;Digital arthropathy-brachydactyly, familial 606835 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000111199 ENSG00000111199 HGNC:18083 TTC21B gene TTC21B Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 Limb abnormality;HP:0040064 14520415;19797195 False 3 100;0;0 0.88 True ENSG00000165533 ENSG00000165533 HGNC:20087 TWIST1 gene TWIST1 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow-Sorauf syndrome, MIM# 180750 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000122691 ENSG00000122691 HGNC:12428 UBA2 gene UBA2 Expert Review Green;Expert Review Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ACCES syndrome, MIM# 619959;Split-Hand/Foot Malformation;Aplasia Cutis Congenita;Ectrodactyly Limb abnormality;HP:0040064 31332306;31587267;34159400 False 3 100;0;0 0.88 True ENSG00000126261 ENSG00000126261 HGNC:30661 UBE2T gene UBE2T Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group T, MIM# 616435" Limb abnormality;HP:0040064 26046368;26085575;26119737 False 3 100;0;0 0.88 True ENSG00000077152 ENSG00000077152 HGNC:25009 UBE3B gene UBE3B Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, MIM# 244450;MONDO:0009485 Limb abnormality;HP:0040064 23200864;23200864;34012380;32949109 False 3 100;0;0 0.88 True ENSG00000151148 ENSG00000151148 HGNC:13478 USP9X gene USP9X Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel 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 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000124486 ENSG00000124486 HGNC:12632 WDPCP gene WDPCP Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992;OFD;Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Limb abnormality;HP:0040064 20671153;25427950;32055034;29588463;28289185 False 3 100;0;0 0.88 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, MIM#613610;MONDO:0013323;Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091;MONDO:0013569 Limb abnormality;HP:0040064 33421337;29134781;28870638;26691894;24027799;21473986 False 3 100;0;0 0.88 True ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503;Retinitis pigmentosa Limb abnormality;HP:0040064 23910462;29271569;26874042 False 3 100;0;0 0.88 True ENSG00000126870 ENSG00000126870 HGNC:21862 WNT10B gene WNT10B Expert list;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6 225300 Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT5A gene WNT5A Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1 180700 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 False ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A Expert Review Green;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Santos syndrome, MIM# 613005;Fuhrmann syndrome 228930 Limb abnormality;HP:0040064 False 3 100;0;0 0.88 True ENSG00000154764 ENSG00000154764 HGNC:12786 WNT7A gene WNT7A Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fuhrmann syndrome, MIM# 228930;Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820" Limb abnormality;HP:0040064 21344627;20949531;16826533 False 3 100;0;0 0.88 True ENSG00000154764 ENSG00000154764 HGNC:12786 ZIC3 gene ZIC3 Expert Review Green;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "VACTERL association, X-linked 314390" Limb abnormality;HP:0040064 21465648;20452998;26294094 False 3 100;0;0 0.88 True ENSG00000156925 ENSG00000156925 HGNC:12874 ZRSR2 gene ZRSR2 Expert Review Green;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, MIM# 301132 Limb abnormality;HP:0040064 38158857 False 3 100;0;0 0.88 True ENSG00000169249 ENSG00000169249 HGNC:23019 ZSWIM6 gene ZSWIM6 Victorian Clinical Genetics Services;Expert Review Green Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Limb abnormality;HP:0040064 False 3 0;0;0 0.88 False ENSG00000130449 ENSG00000130449 HGNC:29316