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 ABCC9 gene ABCC9 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypertrichotic osteochondrodysplasia, Cantu syndrome 239850 24352916;36980886 False 1 0;33;67 6.4 False ENSG00000069431 ENSG00000069431 HGNC:60 ACVR2A gene ACVR2A Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 35997807;36980886 False 1 0;0;100 6.4 False ENSG00000121989 ENSG00000121989 HGNC:173 ACVRL1 gene ACVRL1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 35997807;36980886 False 1 0;0;100 6.4 False ENSG00000139567 ENSG00000139567 HGNC:175 ALX1 gene ALX1 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Frontonasal dysplasia type 3 False 1 0;50;50 6.4 False ENSG00000180318 ENSG00000180318 HGNC:1494 ALX3 gene ALX3 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Frontonasal dysplasia type 1 (frontorhiny) False 1 0;50;50 6.4 False ENSG00000156150 ENSG00000156150 HGNC:449 ARAP3 gene ARAP3 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000120318 ENSG00000120318 HGNC:24097 ATR gene ATR Expert list;Expert Review Red;NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Seckel syndrome 1 210600 False 1 0;67;33 6.4 True ENSG00000175054 ENSG00000175054 HGNC:882 AXIN1 gene AXIN1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000103126 ENSG00000103126 HGNC:903 BBS9 gene BBS9 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Bardet-Biedl syndrome 9 615986 False 1 0;50;50 6.4 False ENSG00000122507 ENSG00000122507 HGNC:30000 BMP4 gene BMP4 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal orofacial cleft;Microphthalmia, syndromic type 6 607932 False 1 0;50;50 6.4 False ENSG00000125378 ENSG00000125378 HGNC:1071 BRWD3 gene BRWD3 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females craniosynostosis, MONDO:0015469 34429528;36980886 False 1 0;0;100 6.4 False ENSG00000165288 ENSG00000165288 HGNC:17342 CACNA1E gene CACNA1E Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 32530565;36980886 False 1 0;0;100 6.4 False ENSG00000198216 ENSG00000198216 HGNC:1392 CCBE1 gene CCBE1 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 False 1 0;50;50 6.4 False ENSG00000183287 ENSG00000183287 HGNC:29426 CD96 gene CD96 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal C syndrome False 1 0;50;50 6.4 False ENSG00000153283 ENSG00000153283 HGNC:16892 CDK8 gene CDK8 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 30905399;36980886 False 1 0;0;100 6.4 False ENSG00000132964 ENSG00000132964 HGNC:1779 CEP120 gene CEP120 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal short rib thoracic dysplasia 13 +/- polydactyly;Joubert syndrome 31 False 1 0;50;50 6.4 False ENSG00000168944 ENSG00000168944 HGNC:26690 CHD3 gene CHD3 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 30397230;36980886 False 1 0;0;100 6.4 False ENSG00000170004 ENSG00000170004 HGNC:1918 CHST3 gene CHST3 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Spondyloepiphyseal dysplasia with congenital joint dislocations False 1 0;50;50 6.4 False ENSG00000122863 ENSG00000122863 HGNC:1971 COL11A1 gene COL11A1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 34429528;36980886 False 1 0;0;100 6.4 False ENSG00000060718 ENSG00000060718 HGNC:2186 COLEC10 gene COLEC10 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MC syndrome 3 248340 False 1 0;100;0 6.4 False ENSG00000184374 ENSG00000184374 HGNC:2220 CRTAP gene CRTAP NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Cole Carpenter 25604815 False 1 0;100;0 6.4 False ENSG00000170275 ENSG00000170275 HGNC:2379 CTNNA1 gene CTNNA1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 31292255;36980886 False 1 0;0;100 6.4 False ENSG00000044115 ENSG00000044115 HGNC:2509 DHRS3 gene DHRS3 Expert Review;NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal coronal craniosynostosis, septal heart defects False 1 0;67;33 6.4 False ENSG00000162496 ENSG00000162496 HGNC:17693 DVL3 gene DVL3 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000161202 ENSG00000161202 HGNC:3087 EDNRB gene EDNRB NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Waardenburg syndrome;ABCD syndrome;Hirschprung disease False 1 0;50;50 6.4 False ENSG00000136160 ENSG00000136160 HGNC:3180 EFNA4 gene EFNA4 Expert list;Expert Review Red;NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal False 1 0;33;67 6.4 True ENSG00000243364 ENSG00000243364 HGNC:3224 EHMT1 gene EHMT1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 33288889;36980886 False 1 0;0;100 6.4 False ENSG00000181090 ENSG00000181090 HGNC:24650 EIF5A gene EIF5A Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 36118902;36980886 False 1 0;0;100 6.4 False ENSG00000132507 ENSG00000132507 HGNC:3300 EXTL3 gene EXTL3 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 35080095;36980886 False 1 0;0;100 6.4 False ENSG00000012232 ENSG00000012232 HGNC:3518 FGF3 gene FGF3 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal congenital deafness with inner ear agenesis, microtia and microdontia False 1 0;50;50 6.4 False ENSG00000186895 ENSG00000186895 HGNC:3681 FLNB gene FLNB NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal spondylo-carpel-tarsel dysplasia;Larsen syndrome (dominant);atelsteogenesis type 1/3 False 1 0;50;50 6.4 False ENSG00000136068 ENSG00000136068 HGNC:3755 FOXO1 gene FOXO1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 35997807;36980886 False 1 0;0;100 6.4 False ENSG00000150907 ENSG00000150907 HGNC:3819 FOXP1 gene FOXP1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 29330474;36980886 False 1 0;0;100 6.4 False ENSG00000114861 ENSG00000114861 HGNC:3823 FOXP2 gene FOXP2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 35080095;36980886 False 1 0;0;100 6.4 False ENSG00000128573 ENSG00000128573 HGNC:13875 FTO gene FTO Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal craniosynostosis, MONDO:0015469 26697951;36980886 False 1 0;0;100 6.4 False ENSG00000140718 ENSG00000140718 HGNC:24678 FUZ gene FUZ Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal craniosynostosis, MONDO:0015469 34719684;36980886 False 1 0;0;100 6.4 False ENSG00000010361 ENSG00000010361 HGNC:26219 GINS2 gene GINS2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome with craniosynostosis 34353863 False 1 0;0;100 6.4 False ENSG00000131153 ENSG00000131153 HGNC:24575 GLI2 gene GLI2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 31292255;36980886 False 1 0;0;100 6.4 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLIS3 gene GLIS3 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal craniosynostosis, MONDO:0015469 26259131;36980886 False 1 0;0;100 6.4 False ENSG00000107249 ENSG00000107249 HGNC:28510 GPC4 gene GPC4 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females craniosynostosis, MONDO:0015469 31292255;36980886 False 1 0;0;100 6.4 False ENSG00000076716 ENSG00000076716 HGNC:4452 H3F3A gene H3F3A Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 33268356;36980886 False 1 0;0;100 6.4 False ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 33268356;36980886 False 1 0;0;100 6.4 False ENSG00000132475 ENSG00000132475 HGNC:4765 HDAC4 gene HDAC4 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal craniosynostosis, MONDO:0015469 33288889;36980886 False 1 0;0;100 6.4 False ENSG00000068024 ENSG00000068024 HGNC:14063 HIST1H1E gene HIST1H1E Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 36118902;36980886 False 1 0;0;100 6.4 False ENSG00000168298 ENSG00000168298 HGNC:4718 IFRD1 gene IFRD1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 35997807;36980886 False 1 0;0;100 6.4 False ENSG00000006652 ENSG00000006652 HGNC:5456 IFT43 gene IFT43 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly 617866;Cranioectodermal dysplasia type 3 614099 21378380 False 1 0;75;25 6.4 False ENSG00000119650 ENSG00000119650 HGNC:29669 IGF1R gene IGF1R NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Insulin-like growth factor I, resistance to, OMIM:270450 False 1 0;50;50 6.4 False ENSG00000140443 ENSG00000140443 HGNC:5465 IMPAD1 gene IMPAD1 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Chondrodysplasia with joint dislocations, GPAPP type False 1 0;100;0 6.4 False ENSG00000104331 ENSG00000104331 HGNC:26019 KANSL1 gene KANSL1 Expert Review Red Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Koolen-de Vries/KANSL haploinsufficiency syndrome. 26424144;21094706;19447831 False 1 0;0;100 6.4 False ENSG00000120071 ENSG00000120071 HGNC:24565 KDM6A gene KDM6A NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Kabuki syndrome 2 300867 False 1 0;50;50 6.4 False ENSG00000147050 ENSG00000147050 HGNC:12637 KMT5B gene KMT5B Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 34429528;36980886 False 1 0;0;100 6.4 False ENSG00000110066 ENSG00000110066 HGNC:24283 LMX1B gene LMX1B Expert list;Expert Review Red;NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Nail-patella syndrome - LOF False 1 0;33;67 6.4 True ENSG00000136944 ENSG00000136944 HGNC:6654 LRP5 gene LRP5 Expert list;Expert Review Red;NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal False 1 0;67;33 6.4 True ENSG00000162337 ENSG00000162337 HGNC:6697 MACF1 gene MACF1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000127603 ENSG00000127603 HGNC:13664 MED13L gene MED13L Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789;craniosynostosis, MONDO:0015469 28371282;36980886 False 1 0;0;100 6.4 False ENSG00000123066 ENSG00000123066 HGNC:22962 MMP21 gene MMP21 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal craniosynostosis, MONDO:0015469 34429528;36980886 False 1 0;0;100 6.4 False ENSG00000154485 ENSG00000154485 HGNC:14357 NAA25 gene NAA25 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 30152016;36980886 False 1 0;0;100 6.4 False ENSG00000111300 ENSG00000111300 HGNC:25783 NOG gene NOG NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Tarsal-carpal coalition syndrome;Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome);Brachydactyly type B2;Multiple synostosis syndrome;Symphalangism, proximal False 1 0;50;50 6.4 False ENSG00000183691 ENSG00000183691 HGNC:7866 NTRK2 gene NTRK2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Obesity, hyperphagia, and developmental delay, OMIM:613886;craniosynostosis, MONDO:0015469 27884935;36980886 False 1 0;0;100 6.4 False ENSG00000148053 ENSG00000148053 HGNC:8032 OSTM1 gene OSTM1 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5, OMIM:259720;craniosynostosis, MONDO:0015469 23772242;36980886 False 1 0;33;67 6.4 False ENSG00000081087 ENSG00000081087 HGNC:21652 PAX3 gene PAX3 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Waardenburg syndrome;Craniofacial-deafness-hand syndrome False 1 0;50;50 6.4 False ENSG00000135903 ENSG00000135903 HGNC:8617 PITX2 gene PITX2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 36980886 False 1 0;0;100 6.4 False ENSG00000164093 ENSG00000164093 HGNC:9005 POLR2A gene POLR2A Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603;craniosynostosis, MONDO:0015469 35080095;36980886 False 1 0;0;100 6.4 False ENSG00000181222 ENSG00000181222 HGNC:9187 PSMC2 gene PSMC2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000161057 ENSG00000161057 HGNC:9548 PSMC5 gene PSMC5 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000087191 ENSG00000087191 HGNC:9552 PSMD12 gene PSMD12 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 34429528;36980886 False 1 0;0;100 6.4 False ENSG00000197170 ENSG00000197170 HGNC:9557 PTH2R gene PTH2R Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Other craniosynostosis, MONDO:0015469 26044810;36980886 False 1 0;0;100 6.4 False ENSG00000144407 ENSG00000144407 HGNC:9609 PTPRD gene PTPRD NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal False 1 0;100;0 6.4 False ENSG00000153707 ENSG00000153707 HGNC:9668 PUF60 gene PUF60 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted craniosynostosis, MONDO:0015469 36367278;36980886 False 1 0;0;100 6.4 False ENSG00000179950 ENSG00000179950 HGNC:17042 RASAL2 gene RASAL2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000075391 ENSG00000075391 HGNC:9874 SCARF2 gene SCARF2 Expert Review;Expert Review Red;NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome 20887961 False 1 0;50;50 6.4 True ENSG00000244486 ENSG00000244486 HGNC:19869 SCN4A gene SCN4A NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal False 1 0;50;50 6.4 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCN8A gene SCN8A Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted craniosynostosis, MONDO:0015469 34429528;36980886 False 1 0;0;100 6.4 False ENSG00000196876 ENSG00000196876 HGNC:10596 SH3BP4 gene SH3BP4 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal craniosynostosis, MONDO:0015469 35080095;36980886 False 1 0;0;100 6.4 False ENSG00000130147 ENSG00000130147 HGNC:10826 SH3PXD2B gene SH3PXD2B Expert list;Expert Review Red;NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Borrone dermato-cardio-skeletal syndrome;Frank-ter-har 249420;249420 23140272 False 1 0;40;60 6.4 True ENSG00000174705 ENSG00000174705 HGNC:29242 SIX2 gene SIX2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted six2-related frontonasal dysplasia, MONDO:0044628;craniosynostosis, MONDO:0015469 26581443;36980886 False 1 0;0;100 6.4 False ENSG00000170577 ENSG00000170577 HGNC:10888 SLC3A2 gene SLC3A2 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal no disorder assigned on OMIM - possible role in immune function based on mouse studies. False 1 0;50;50 6.4 False ENSG00000168003 ENSG00000168003 HGNC:11026 SMAD2 gene SMAD2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 6, OMIM:619656 34429528;36980886 False 1 0;0;100 6.4 False ENSG00000175387 ENSG00000175387 HGNC:6768 SMARCD2 gene SMARCD2 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000108604 ENSG00000108604 HGNC:11107 SMC1A gene SMC1A Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal 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, OMIM:300590;craniosynostosis, MONDO:0015469 29037998;36980886 False 1 0;0;100 6.4 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMURF1 gene SMURF1 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000198742 ENSG00000198742 HGNC:16807 SOX10 gene SOX10 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Hirschsprung disease;Waardenburg syndrome;Peripheral demyelinating neuropathy;central dysmyelination False 1 0;50;50 6.4 False ENSG00000100146 ENSG00000100146 HGNC:11190 SP7 gene SP7 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 35121733;36980886 False 1 0;0;100 6.4 False ENSG00000170374 ENSG00000170374 HGNC:17321 SPRY4 gene SPRY4 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000187678 ENSG00000187678 HGNC:15533 SRCAP gene SRCAP Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 33288889;36980886 False 1 0;0;100 6.4 False ENSG00000080603 ENSG00000080603 HGNC:16974 TCOF1 gene TCOF1 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Treacher-Collins syndrome False 1 0;50;50 6.4 False ENSG00000070814 ENSG00000070814 HGNC:11654 TICRR gene TICRR Expert Review;NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal coronal craniosynostosis, cardiomyopathy False 1 0;33;67 6.4 False ENSG00000140534 ENSG00000140534 HGNC:28704 TMEM251 gene TMEM251 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Dysostosis multiplex, Ain-Naz type, OMIM:619345;craniosynostosis, MONDO:0015469 33252156;36980886 False 1 0;0;100 6.4 False ENSG00000153485 ENSG00000153485 HGNC:20218 TWIST2 gene TWIST2 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ablepharon-macrostomia syndrome;Barber-Say syndrome;Focal facial dermal dysplasia 3, Setleis type 31292255;36980886 False 1 0;33;67 6.4 False ENSG00000233608 ENSG00000233608 HGNC:20670 WDR19 gene WDR19 NHS GMS Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal Cranioectodermal dysplasia type 4 614378 False 1 0;100;0 6.4 False ENSG00000157796 ENSG00000157796 HGNC:18340 ZBTB20 gene ZBTB20 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primrose syndrome, OMIM:259050;craniosynostosis, MONDO:0015469 34429528;36980886 False 1 0;0;100 6.4 False ENSG00000181722 ENSG00000181722 HGNC:13503 ZCCHC11 gene ZCCHC11 Literature Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown craniosynostosis, MONDO:0015469 28808027;36980886 False 1 0;0;100 6.4 False ENSG00000134744 ENSG00000134744 HGNC:28981