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 ALMS1 gene ALMS1 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM#203800 Limb abnormality;HP:0040064 False 1 0;0;100 0.131 True ENSG00000116127 ENSG00000116127 HGNC:428 ALX3 gene ALX3 Expert Review Red;Genetic Health Queensland;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1, MIM#136760 Limb abnormality;HP:0040064 19409524 False 1 0;0;100 0.131 True ENSG00000156150 ENSG00000156150 HGNC:449 ARMC8 gene ARMC8 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes Unknown Limb abnormality;HP:0040064 False 1 0;0;100 0.131 True ENSG00000114098 ENSG00000114098 HGNC:24999 DACT1 gene DACT1 Expert Review Red;NHS GMS Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Townes-Brocks syndrome 2 (OMIM #617466) Limb abnormality;HP:0040064 PMID: 28054444;22610794;19701191 False 1 0;0;100 0.131 True ENSG00000165617 ENSG00000165617 HGNC:17748 DLX6 gene DLX6 Expert Review Red;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Split-hand/foot malformation 1 183600 Limb abnormality;HP:0040064 28611547 False 1 0;0;100 0.131 True ENSG00000006377 ENSG00000006377 HGNC:2919 FANCM gene FANCM Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia Limb abnormality;HP:0040064 28837162 False 1 0;0;100 0.131 True ENSG00000187790 ENSG00000187790 HGNC:23168 FBLN1 gene FBLN1 Expert Review Red;Expert list;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 Limb abnormality;HP:0040064 24084572 False 1 0;0;100 0.131 True ENSG00000077942 ENSG00000077942 HGNC:3600 FBXW4 gene FBXW4 Expert Review Red;Expert list Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes Unknown Split-hand/foot malformation 3 syndrome 246560 Limb abnormality;HP:0040064 12913067;16235095;27600068 False 1 0;0;100 0.131 True ENSG00000107829 ENSG00000107829 HGNC:10847 GATA1 gene GATA1 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes Unknown Limb abnormality;HP:0040064 False 1 0;0;100 0.131 True ENSG00000102145 ENSG00000102145 HGNC:4170 IFT57 gene IFT57 Expert Review Red;Expert list;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XVIII MIM#617927 Limb abnormality;HP:0040064 27060890 False 1 0;0;100 0.131 True ENSG00000114446 ENSG00000114446 HGNC:17367 LRP4 gene LRP4 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Cenani-Lenz syndactyly syndrome, MIM# 212780;Sclerosteosis 2, MIM# 614305" Limb abnormality;HP:0040064 False 1 0;0;100 0.131 True ENSG00000134569 ENSG00000134569 HGNC:6696 LTBP2 gene LTBP2 Expert Review Red;Expert list;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes Unknown Weill-Marchesani Limb abnormality;HP:0040064 22539340 False 1 50;0;50 0.131 True ENSG00000119681 ENSG00000119681 HGNC:6715 PNPLA6 gene PNPLA6 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Laurence-Moon syndrome - MIM#245800;Boucher-Neuhauser syndrome - MIM#215470;Oliver-McFarlane syndrome - #275400;Spastic paraplegia 39, autosomal recessive - #612020 Limb abnormality;HP:0040064 35069422;33818269;25299038;34157508;33210227;33141049;32758583;32586184;31135245;30097146;25574898 False 1 0;0;100 0.131 True ENSG00000032444 ENSG00000032444 HGNC:16268 PROM1 gene PROM1 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod dystrophy 12, MIM# 612657;Macular dystrophy, retinal, 2, MIM# 608051;Retinitis pigmentosa 41, MIM# 612095;Stargardt disease 4, MIM# 603786 Limb abnormality;HP:0040064 False 1 0;0;100 0.131 True ENSG00000007062 ENSG00000007062 HGNC:9454 RPS28 gene RPS28 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Limb abnormality;HP:0040064 24942156 False 1 0;0;100 0.131 True ENSG00000233927 ENSG00000233927 HGNC:10418 SDCCAG8 gene SDCCAG8 Expert Review Red;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 16, MIM# 615993 Limb abnormality;HP:0040064 20835237;22626039;22626039 False 1 0;0;100 0.131 True ENSG00000054282 ENSG00000054282 HGNC:10671 TBX22 gene TBX22 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Cleft palate with ankyloglossia, MIM# 303400;Abruzzo-Erickson syndrome, MIM# 302905 Limb abnormality;HP:0040064 11559848;12374769;14729838;17868388;22784330;22784330 False 1 0;0;100 0.131 True ENSG00000122145 ENSG00000122145 HGNC:11600 TRIM32 gene TRIM32 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 Limb abnormality;HP:0040064 16606853 False 1 0;0;100 0.131 True ENSG00000119401 ENSG00000119401 HGNC:16380 WNT3 gene WNT3 Expert Review Red;Expert list;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Tetra-amelia syndrome 273395 Limb abnormality;HP:0040064 14872406 False 1 0;0;100 0.131 True ENSG00000108379 ENSG00000108379 HGNC:12782 ZNF141 gene ZNF141 Expert Review Red;Victorian Clinical Genetics Services Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A6, MIM# 615226 Limb abnormality;HP:0040064 23160277 False 1 0;0;100 0.131 True ENSG00000131127 ENSG00000131127 HGNC:12926 DLX5 downstream regulatory region region DYNC1I1 Literature;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Split-hand/foot malformation 1 MIM#183600 Limb abnormality;HP:0040064 PMID: 26839112;37916192;26075025;24459211 False 1 100;0;0 0.131 False ENSG00000158560 ENSG00000158560 HGNC:2963 7 96075000 96100000 70 cnv_loss DLX5 downstream regulatory region IHH upstream regulatory region region Literature;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900;Syndactyly, type 1, MIM#185900 Limb abnormality;HP:0040064 PMID: 21167467 False 1 100;0;0 0.131 False 2 219109600 219115111 70 cnv_gain IHH upstream regulatory region PITX1 upstream regulatory region region Literature;Literature Limb and Digital Malformations SuperPanel Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Liebenberg syndrome, MIM#186550 Limb abnormality;HP:0040064 PMID: 30711920;23022097;25124102;23587911 False 1 100;0;0 0.131 False 5 135302834 135410717 70 cnv_loss PITX1 upstream regulatory region SHOX downstream regulatory region region Literature;Literature 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);Short stature, idiopathic familial (MIM#300582) Limb abnormality;HP:0040064 PMID: 30250174;22791839;23636926;20301394 False 1 100;0;0 0.131 False X 707570 874837 3 70 cnv_loss SHOX downstream regulatory region