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 EFNB1 gene EFNB1 Expert list;Expert Review Green;NHS GMS Common craniosynostosis syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Craniofrontonasal dysplasia OMIM:304110 False 3 0;100;0 1.15 False Other ENSG00000090776 ENSG00000090776 HGNC:3226 ERF gene ERF Expert list;Expert Review Green;NHS GMS Common craniosynostosis syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 4 OMIM:600775 False 3 0;100;0 1.15 False ENSG00000105722 ENSG00000105722 HGNC:3444 FGFR1 gene FGFR1 Expert list;Expert Review Green;NHS GMS Common craniosynostosis syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Jackson-Weiss syndrome OMIM:123150;Osteoglophonic dysplasia OMIM:166250;Pfeiffer syndrome OMIM:101600;Trigonocephaly 1 OMIM:190440 False 3 0;100;0 1.15 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert list;Expert Review Green;NHS GMS Common craniosynostosis syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410;Apert syndrome OMIM:101200;Beare-Stevenson cutis gyrata syndrome OMIM:123790;Pfeiffer syndrome OMIM:101600;Craniofacial-skeletal-dermatologic dysplasia OMIM:101600;Crouzon syndrome OMIM:123500;Jackson-Weiss syndrome OMIM:123150;Saethre-Chotzen syndrome OMIM:101400;Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579 False 3 0;100;0 1.15 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert list;Expert Review Green;NHS GMS Common craniosynostosis syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muenke syndrome OMIM:602849;Crouzon syndrome with acanthosis nigricans OMIM:612247;Thanatophoric dysplasia, type I OMIM:187600;Thanatophoric dysplasia, type II OMIM:187601 False 3 0;100;0 1.15 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000068078 ENSG00000068078 HGNC:3690 TCF12 gene TCF12 Expert list;Expert Review Green;NHS GMS Common craniosynostosis syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 3 OMIM:615314 False 3 0;100;0 1.15 False ENSG00000140262 ENSG00000140262 HGNC:11623 TWIST1 gene TWIST1 Expert list;Expert Review Green;NHS GMS Common craniosynostosis syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 1 OMIM:123100;Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400 False 3 0;100;0 1.15 False ENSG00000122691 ENSG00000122691 HGNC:12428