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		Musculoskeletal	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	1.16	False	Other	ENSG00000090776	ENSG00000090776	HGNC:3226													
ERF	gene	ERF	Expert list;Expert Review Green;NHS GMS	Common craniosynostosis syndromes		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Craniosynostosis 4 OMIM:600775						False	3	0;100;0	1.16	False		ENSG00000105722	ENSG00000105722	HGNC:3444													
FGFR1	gene	FGFR1	Expert list;Expert Review Green;NHS GMS	Common craniosynostosis syndromes		Musculoskeletal	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	1.16	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		Musculoskeletal	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	1.16	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		Musculoskeletal	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	1.16	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		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Craniosynostosis 3 OMIM:615314						False	3	0;100;0	1.16	False		ENSG00000140262	ENSG00000140262	HGNC:11623													
TWIST1	gene	TWIST1	Expert list;Expert Review Green;NHS GMS	Common craniosynostosis syndromes		Musculoskeletal	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	1.16	False		ENSG00000122691	ENSG00000122691	HGNC:12428