Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACTB gene ACTB Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, MIM# 243310 False 3 100;0;0 1.68 True ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 2, MIM# 614583 False 3 100;0;0 1.68 True ENSG00000184009 ENSG00000184009 HGNC:144 ADAMTSL4 gene ADAMTSL4 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Ectopia lentis et pupillae MIM#225200;Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related" 22871183;20702823;35378950;28642162 False 3 50;0;50 1.68 True ENSG00000143382 ENSG00000143382 HGNC:19706 AHDC1 gene AHDC1 Expert Review;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Xia-Gibbs syndrome, MIM# 615829 27884935;30858058;30152016;27148574;33288889 False 3 100;0;0 1.68 True ENSG00000126705 ENSG00000126705 HGNC:25230 ALPL gene ALPL Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal 241500 HYPOPHOSPHATASIA, INFANTILE 29405940;26590809;30979546;31754721 False 3 100;0;0 1.68 True ENSG00000162551 ENSG00000162551 HGNC:438 ALX4 gene ALX4 Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Frontonasal dysplasia 2 MIM#613451;Parietal foramina 2 MIM#609597 19692347;29215649;22829454 False 3 100;0;0 1.68 True ENSG00000052850 ENSG00000052850 HGNC:450 ARID1B gene ARID1B Expert Review;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1, MIM# 135900 36118902;34429528;27474218;32530565 False 3 100;0;0 1.68 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARSB gene ARSB Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VI (MPS6, MIM# 253200 False 3 100;0;0 1.68 True ENSG00000113273 ENSG00000113273 HGNC:714 ASXL1 gene ASXL1 Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome,MIM# 605039 False 3 100;0;0 1.68 True ENSG00000171456 ENSG00000171456 HGNC:18318 B3GAT3 gene B3GAT3 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600 31438591 False 3 100;0;0 1.68 True ENSG00000149541 ENSG00000149541 HGNC:923 BCL11B gene BCL11B Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis, MONDO:0015469, BCL11B-related 36980886;34900871 False 3 100;0;0 1.68 True ENSG00000127152 ENSG00000127152 HGNC:13222 BRAF gene BRAF Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CFC 28650561 False 3 100;0;0 1.68 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 CDC45 gene CDC45 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 7 MIM#617063 27374770;33639314;27884935 False 3 100;0;0 1.68 True ENSG00000093009 ENSG00000093009 HGNC:1739 CDK13 gene CDK13 Expert Review;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360 34429528;28807008;33288889 False 3 100;0;0 1.68 True ENSG00000065883 ENSG00000065883 HGNC:1733 CHD7 gene CHD7 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM#214800;bi-coronal craniosynostosis, MONDO:0015469, CHD7-associated PMID: 33844462;30498854;33288889 False 3 100;0;0 1.68 True ENSG00000171316 ENSG00000171316 HGNC:20626 COLEC11 gene COLEC11 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal 265050 3MC SYNDROME 2 21258343 False 3 100;0;0 1.68 True ENSG00000118004 ENSG00000118004 HGNC:17213 CTSK gene CTSK Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis, MIM#265800 21968522;23175007 False 3 100;0;0 1.68 True ENSG00000143387 ENSG00000143387 HGNC:2536 CYP26B1 gene CYP26B1 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416 27410456;22019272 False 3 100;0;0 1.68 True ENSG00000003137 ENSG00000003137 HGNC:20581 EFNB1 gene EFNB1 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes Other Craniofrontonasal dysplasia, MIM# 304110 15166289;18627045;23335590 False 3 100;0;0 1.68 True ENSG00000090776 ENSG00000090776 HGNC:3226 ERF gene ERF Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 4, MIM# 600775 23354439;26097063;32370745;30758909 False 3 100;0;0 1.68 True ENSG00000105722 ENSG00000105722 HGNC:3444 FAM20C gene FAM20C Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Raine syndrome, MIM# 259775" 19250384 False 3 100;0;0 1.68 True ENSG00000177706 ENSG00000177706 HGNC:22140 FBN1 gene FBN1 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome;Marfan syndrome MIM#154700 8563763;16596670;24039054;27884935 False 3 100;0;0 1.68 True ENSG00000166147 ENSG00000166147 HGNC:3603 FBXO11 gene FBXO11 Expert Review;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089 34429528;30057029 False 3 100;0;0 1.68 True ENSG00000138081 ENSG00000138081 HGNC:13590 FGF9 gene FGF9 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple synostoses syndrome 3 MIM#612961 19589401;28730625;19219044 False 3 50;50;0 1.68 True ENSG00000102678 ENSG00000102678 HGNC:3687 FGFR1 gene FGFR1 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pfeiffer syndrome, MIM# 101600;Jackson-Weiss syndrome 123150 False 3 100;0;0 1.68 True Other ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Apert syndrome, MIM# 101200;Crouzon syndrome, MIM# 123500;Pfeiffer syndrome, MIM# 101600;Saethre-Chotzen syndrome, MIM# 101400 False 3 100;0;0 1.68 True Other ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Crouzon syndrome with acanthosis nigricans, MIM# 612247;Muenke syndrome, MIM# 602849 False 3 100;0;0 1.68 True Other ENSG00000068078 ENSG00000068078 HGNC:3690 FLNA gene FLNA Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) otopalatodigital spectrum 25873011;16835913;21031081 False 3 100;0;0 1.68 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000196924 ENSG00000196924 HGNC:3754 GLI3 gene GLI3 Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metopic craniosynostosis;Greig cephalopolysyndactyly syndrome MIM#175700 20583172;20570969;21326280 False 3 100;0;0 1.68 True ENSG00000106571 ENSG00000106571 HGNC:4319 GNB1 gene GNB1 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 32134617 False 3 100;0;0 1.68 True ENSG00000078369 ENSG00000078369 HGNC:4396 GNPTAB gene GNPTAB Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucolipidosis II alpha/beta(I cell disease), MIM# 252500 24891900;24060719 False 3 100;0;0 1.68 True ENSG00000111670 ENSG00000111670 HGNC:29670 HNRNPK gene HNRNPK Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Au-Kline syndrome, MIM#616580 26173930;26954065;29904177 False 3 100;0;0 1.68 True ENSG00000165119 ENSG00000165119 HGNC:5044 HUWE1 gene HUWE1 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis 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) Mental retardation, X-linked syndromic, Turner type MIM#309590 False 3 100;0;0 1.68 True ENSG00000086758 ENSG00000086758 HGNC:30892 IDS gene IDS Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900 15314824 False 3 100;0;0 1.68 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014;607016 23917744 False 3 100;0;0 1.68 True ENSG00000127415 ENSG00000127415 HGNC:5391 IFT122 gene IFT122 Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1 MIM#218330;MONDO:0021093 26792575;28370949;29037998 False 3 100;0;0 1.68 True ENSG00000163913 ENSG00000163913 HGNC:13556 IHH gene IHH Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis, Philadelphia type False 3 100;0;0 1.68 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000163501 ENSG00000163501 HGNC:5956 IL11RA gene IL11RA Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Craniosynostosis and dental anomalies, MIM# 614188 21741611;32277509;30811827;29926465;24498618 False 3 100;0;0 1.68 True ENSG00000137070 ENSG00000137070 HGNC:5967 IRX5 gene IRX5 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Hamamy syndrome MIM#611174" 22581230;27453922;34899143 False 3 50;0;50 1.68 True ENSG00000176842 ENSG00000176842 HGNC:14361 KAT6A gene KAT6A Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arboleda-Tham syndrome, MIM#616268 30245513;25728777;33288889;28696035 False 3 100;0;0 1.68 True ENSG00000083168 ENSG00000083168 HGNC:13013 KAT6B gene KAT6B Expert Review;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SBBYSS syndrome, MIM# 603736 33288889;28696035 False 3 100;0;0 1.68 True ENSG00000156650 ENSG00000156650 HGNC:17582 KRAS gene KRAS Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 26249544;28650561 False 3 100;0;0 1.68 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133703 ENSG00000133703 HGNC:6407 LTBP1 gene LTBP1 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIE MIM#619451 33991472 False 3 100;0;0 1.68 True ENSG00000049323 ENSG00000049323 HGNC:6714 MAN2B1 gene MAN2B1 Expert Review;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM# 248500 34429528;33288889;35242565 False 3 100;0;0 1.68 True ENSG00000104774 ENSG00000104774 HGNC:6826 MAP3K20 gene MAP3K20 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254, MAP3K20-related 38451290 False 3 100;0;0 1.68 True ENSG00000091436 ENSG00000091436 HGNC:17797 MASP1 gene MASP1 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal 3MC syndrome, MIM#257920 7677137;21258343 False 3 100;0;0 1.68 True ENSG00000127241 ENSG00000127241 HGNC:6901 MEGF8 gene MEGF8 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome, MIM#614976 23063620 False 3 100;0;0 1.68 True ENSG00000105429 ENSG00000105429 HGNC:3233 MSX2 gene MSX2 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 2, MIM# 604757 23949913;27884935;23918290;2359311;22948472;19533795 False 3 100;0;0 1.68 True ENSG00000120149 ENSG00000120149 HGNC:7392 NFIA gene NFIA Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis MONDO:0015469, NFIA-related 36980886 False 3 50;50;0 1.68 True ENSG00000162599 ENSG00000162599 HGNC:7784 NFIX gene NFIX Expert Review;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malan syndrome, MIM# 614753 33288889;35997807 False 3 100;0;0 1.68 True ENSG00000008441 ENSG00000008441 HGNC:7788 P4HB gene P4HB Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cole-Carpenter syndrome 1, MIM# 112240" 30063094;29263160;25683117;29384951 False 3 100;0;0 1.68 True ENSG00000185624 ENSG00000185624 HGNC:8548 PHEX gene PHEX Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes Other "Hypophosphatemic rickets, X-linked dominant, MIM# 307800" 19242361;17551721 False 3 100;0;0 1.68 True ENSG00000102174 ENSG00000102174 HGNC:8918 POR gene POR Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM# 201750 26969897;26670660;18259105 False 3 100;0;0 1.68 True ENSG00000127948 ENSG00000127948 HGNC:9208 PRRX1 gene PRRX1 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis, MONDO:0015469, PRRX1-related 36980886 False 3 100;0;0 1.68 True Other ENSG00000116132 ENSG00000116132 HGNC:9142 PTPN11 gene PTPN11 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 28650561 False 3 100;0;0 1.68 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 RAB23 gene RAB23 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome (MIM#201000) 17503333 False 3 100;0;0 1.68 True ENSG00000112210 ENSG00000112210 HGNC:14263 RECQL4 gene RECQL4 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, MIM# 218600 False 3 100;0;0 1.68 True ENSG00000160957 ENSG00000160957 HGNC:9949 RNU12 gene RNU12 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal CDAGS syndrome MIM#603116;Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations 34085356 False 3 100;0;0 1.68 True - - HGNC:19380 RUNX2 gene RUNX2 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 32360898;23348268;23307468 False 3 100;0;0 1.68 True ENSG00000124813 ENSG00000124813 HGNC:10472 SIX1 gene SIX1 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sagittal synostosis;Multi-suture synostosis 33436522 False 3 100;0;0 1.68 True ENSG00000126778 ENSG00000126778 HGNC:10887 SKI gene SKI Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome, MIM# 182212 23023332;23103230;24736733 False 3 100;0;0 1.68 True Other ENSG00000157933 ENSG00000157933 HGNC:10896 SLC25A24 gene SLC25A24 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fontaine progeroid syndrome MIM#612289 29100093 False 3 100;0;0 1.68 True ENSG00000085491 ENSG00000085491 HGNC:20662 SMAD3 gene SMAD3 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3, MIM# 613795 20301312;29392890 False 3 100;0;0 1.68 True ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD6 gene SMAD6 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Craniosynostosis 7, susceptibility to}, MIM# 617439 32499606;27606499 False 3 100;0;0 1.68 True ENSG00000137834 ENSG00000137834 HGNC:6772 SMO gene SMO Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Curry-Jones syndrome, somatic mosaic, MIM# 601707" 27236920 False 3 100;0;0 1.68 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000128602 ENSG00000128602 HGNC:11119 SOX6 gene SOX6 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ADHD;Craniosynostosis;Osteochondromas;Tolchin-Le Caignec syndrome, MIM#618971 32442410 False 3 100;0;0 1.68 True ENSG00000110693 ENSG00000110693 HGNC:16421 SPECC1L gene SPECC1L Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertelorism, Teebi type MIM#145420;Opitz GBBB syndrome, type II, MIM#145410 26111080;30472488;25412741 False 3 50;50;0 1.68 True ENSG00000100014 ENSG00000100014 HGNC:29022 TCF12 gene TCF12 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 3, MIM# 615314 23354436 False 3 100;0;0 1.68 True ENSG00000140262 ENSG00000140262 HGNC:11623 TFAP2B gene TFAP2B Expert list;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic craniosynostosis 31292255 False 3 100;0;0 1.68 True ENSG00000008196 ENSG00000008196 HGNC:11743 TGFBR1 gene TGFBR1 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 15731757 False 3 100;0;0 1.68 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LOEYS-DIETZ SYNDROME 15731757 False 3 100;0;0 1.68 True ENSG00000163513 ENSG00000163513 HGNC:11773 TRAF7 gene TRAF7 Expert Review;Expert Review Green Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164" 32459067;32376980;29961569 False 3 100;0;0 1.68 True ENSG00000131653 ENSG00000131653 HGNC:20456 TSHR gene TSHR Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperthyroidism, nonautoimmune - MIM#609152;Hyperthyroidism, familial gestational - MIM#603373;Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 9589634;18655531;10095169;8981019;16260895;16960398;11081252;18528812;30599487;20138963 False 3 100;0;0 1.68 True ENSG00000165409 ENSG00000165409 HGNC:12373 TWIST1 gene TWIST1 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 1, MIM# 123100;Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 17343269;9585583;12116251;31299755;30040876 False 3 100;0;0 1.68 True ENSG00000122691 ENSG00000122691 HGNC:12428 WDR19 gene WDR19 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 4 , OMIM # 614378 PMID: 24027799 False 3 100;0;0 1.68 True ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, MIM# 613610 20817137;24123776 False 3 100;0;0 1.68 True ENSG00000118965 ENSG00000118965 HGNC:29250 ZIC1 gene ZIC1 Expert Review Green;Victorian Clinical Genetics Services Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Structural brain anomalies with impaired intellectual development and craniosynostosis, MIM# 618736;Craniosynostosis 6, MIM# 616602 26340333;32975022;27884935 False 3 100;0;0 1.68 True ENSG00000152977 ENSG00000152977 HGNC:12872 ZNF462 gene ZNF462 Expert Review Green;Literature Craniosynostosis Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weiss-Kruszka syndrome, MIM#618619 28513610 False 3 100;0;0 1.68 True ENSG00000148143 ENSG00000148143 HGNC:21684