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
DPH1	gene	DPH1	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR				25558065;26220823		False	2	0;100;0	1.68	True		ENSG00000108963	ENSG00000108963	HGNC:3003													
EFNA4	gene	EFNA4	Expert Review Amber;Victorian Clinical Genetics Services	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coronal and metopic craniosynostosis				29168297;29215649		False	2	0;100;0	1.68	True		ENSG00000243364	ENSG00000243364	HGNC:3224													
ESCO2	gene	ESCO2	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	268300 ROBERTS SYNDROME				31192177		False	2	0;100;0	1.68	True		ENSG00000171320	ENSG00000171320	HGNC:27230													
FGF10	gene	FGF10	Expert Review Amber;Victorian Clinical Genetics Services	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Craniosynostosis				29215649		False	2	0;100;0	1.68	True		ENSG00000070193	ENSG00000070193	HGNC:3666													
GNAS	gene	GNAS	Expert list;Expert Review Amber	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pseudohypoparathyroidism type 1a, MIM# 103580;Craniosynostosis				19530187;26340332;26267576		False	2	0;100;0	1.68	True		ENSG00000087460	ENSG00000087460	HGNC:4392													
GPC3	gene	GPC3	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Simpson-Golabi-Behmel syndrome, type 1 MIM#312870				24115482;28796105;19372699		False	2	0;100;0	1.68	True		ENSG00000147257	ENSG00000147257	HGNC:4451													
IL6ST	gene	IL6ST	Expert Review;Expert Review Amber	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523				32566365;28747427		False	2	0;100;0	1.68	True		ENSG00000134352	ENSG00000134352	HGNC:6021													
JAG1	gene	JAG1	Expert list;Expert Review Amber	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Alagille syndrome 1, MIM#	118450"				29530693;12244552		False	2	0;100;0	1.68	True		ENSG00000101384	ENSG00000101384	HGNC:6188													
LMX1B	gene	LMX1B	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coronal craniosynostosis				29852132;20643727		False	2	0;100;0	1.68	True		ENSG00000136944	ENSG00000136944	HGNC:6654													
PJA1	gene	PJA1	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual disability;trigonocephaly				32530565		False	2	0;100;0	1.68	True		ENSG00000181191	ENSG00000181191	HGNC:16648													
POLR1A	gene	POLR1A	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acrofacial dysostosis, Cincinnati type MIM#616462				PMID: 37075751		False	2	0;100;0	1.68	True		ENSG00000068654	ENSG00000068654	HGNC:17264													
RARA	gene	RARA	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Craniosynostosis - MONDO:0015469				PMID: 37086723		False	2	0;100;0	1.68	True		ENSG00000131759	ENSG00000131759	HGNC:9864													
SHOC2	gene	SHOC2	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome with loose anagen hair				28650561;25123707		False	2	0;100;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	ENSG00000108061	ENSG00000108061	HGNC:15454													
SPRY1	gene	SPRY1	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Craniosynostosis, SPRY1-related, MONDO:0015469				36543535		False	2	0;100;0	1.68	True		ENSG00000164056	ENSG00000164056	HGNC:11269													
STAT3	gene	STAT3	Expert list;Expert Review Amber	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Hyper-IgE recurrent infection syndrome, MIM#	147060"				20159255		False	2	0;100;0	1.68	True		ENSG00000168610	ENSG00000168610	HGNC:11364													
TLK2	gene	TLK2	Expert Review Amber;Victorian Clinical Genetics Services	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 57, MIM#618050				29861108		False	2	0;100;0	1.68	True		ENSG00000146872	ENSG00000146872	HGNC:11842													
TMCO1	gene	TMCO1	Expert list;Expert Review Amber	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM#	213980"				20018682;24424126;24194475		False	2	0;100;0	1.68	True		ENSG00000143183	ENSG00000143183	HGNC:18188													
ZEB2	gene	ZEB2	Expert Review Amber;Literature	Craniosynostosis		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mowat-Wilson syndrome MIM#235730				25123255;18076118		False	2	0;100;0	1.68	True		ENSG00000169554	ENSG00000169554	HGNC:14881