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
FIBP	gene	FIBP	Expert Review Amber;Victorian Clinical Genetics Services	Overgrowth		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Thauvin-Robinet-Faivre syndrome, MIM#617107			Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324	26660953;27183861		False	2	0;100;0	1.14	True		ENSG00000172500	ENSG00000172500	HGNC:3705													
GLI3	gene	GLI3	Expert Review Amber;Victorian Clinical Genetics Services	Overgrowth		Dysmorphic and congenital abnormality syndromes	Unknown				Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324			False	2	0;100;0	1.14	True		ENSG00000106571	ENSG00000106571	HGNC:4319													
KMT5B	gene	KMT5B	Expert Review Amber;Victorian Clinical Genetics Services	Overgrowth		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 51, MIM#617788			Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324	25363768;28191889;29276005		False	2	0;100;0	1.14	True		ENSG00000110066	ENSG00000110066	HGNC:24283													
MED12	gene	MED12	Expert Review Amber;Victorian Clinical Genetics Services	Overgrowth		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lujan-Fryns syndrome, MIM# 309520;Opitz-Kaveggia syndrome, MIM# 305450			Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324			False	2	0;100;0	1.14	True		ENSG00000184634	ENSG00000184634	HGNC:11957													
OFD1	gene	OFD1	Expert Review Amber;Victorian Clinical Genetics Services	Overgrowth		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209			Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324	16783569;27589329		False	2	0;100;0	1.14	True		ENSG00000046651	ENSG00000046651	HGNC:2567													
SPIN4	gene	SPIN4	Expert Review Amber;Literature	Overgrowth		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lui-Jee-Baron syndrome MIM#301114			Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324	36927955		False	2	0;100;0	1.14	True		ENSG00000186767	ENSG00000186767	HGNC:27040													
TCF20	gene	TCF20	Expert Review Amber;Victorian Clinical Genetics Services	Overgrowth		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430			Overgrowth;HP:0001548; Tall stature;HP:0000098; Increased body weight;HP:0004324	30739909;30819258;25228304		False	2	0;100;0	1.14	True		ENSG00000100207	ENSG00000100207	HGNC:11631