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
ALX1	gene	ALX1	Expert Review Green;Victorian Clinical Genetics Services	Frontonasal dysplasia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Frontonasal dysplasia 3, MIM#613456			Midline defect of the nose;HP:0004122; Midline facial cleft;HP:0100629; Cranium bifidum occultum;HP:0004423	27324866;20451171;23059813		False	3	100;0;0	1.1	True		ENSG00000180318	ENSG00000180318	HGNC:1494													
ALX3	gene	ALX3	Expert Review Green;Victorian Clinical Genetics Services	Frontonasal dysplasia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Frontonasal dysplasia 1, MIM# 136760			Midline defect of the nose;HP:0004122; Midline facial cleft;HP:0100629; Cranium bifidum occultum;HP:0004423	19409524		False	3	100;0;0	1.1	True		ENSG00000156150	ENSG00000156150	HGNC:449													
ALX4	gene	ALX4	Expert Review Green;Victorian Clinical Genetics Services	Frontonasal dysplasia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Frontonasal dysplasia 2, MIM# 613451			Midline defect of the nose;HP:0004122; Midline facial cleft;HP:0100629; Cranium bifidum occultum;HP:0004423	19692347;22140057;24668755;32216639;31914496;29681084		False	3	100;0;0	1.1	True		ENSG00000052850	ENSG00000052850	HGNC:450													
EFNB1	gene	EFNB1	Expert list;Expert Review Green	Frontonasal dysplasia		Dysmorphic and congenital abnormality syndromes	Other	"Craniofrontonasal dysplasia, MIM#	304110"			Midline defect of the nose;HP:0004122; Midline facial cleft;HP:0100629; Cranium bifidum occultum;HP:0004423	15166289		False	3	100;0;0	1.1	True		ENSG00000090776	ENSG00000090776	HGNC:3226													
MID1	gene	MID1	Expert Review Green;Victorian Clinical Genetics Services	Frontonasal dysplasia		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Opitz GBBB syndrome, type I, MIM# 300000			Midline defect of the nose;HP:0004122; Midline facial cleft;HP:0100629; Cranium bifidum occultum;HP:0004423			False	3	100;0;0	1.1	True		ENSG00000101871	ENSG00000101871	HGNC:7095													
SPECC1L	gene	SPECC1L	Expert Review Green;Victorian Clinical Genetics Services	Frontonasal dysplasia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Opitz GBBB syndrome, type II, MIM# 145410;Hypertelorism, Teebi type, MIM# 145420			Midline defect of the nose;HP:0004122; Midline facial cleft;HP:0100629; Cranium bifidum occultum;HP:0004423			False	3	100;0;0	1.1	True		ENSG00000100014	ENSG00000100014	HGNC:29022													
ZSWIM6	gene	ZSWIM6	Expert Review Green;Victorian Clinical Genetics Services	Frontonasal dysplasia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Acromelic frontonasal dysostosis, MIM# 603671			Midline defect of the nose;HP:0004122; Midline facial cleft;HP:0100629; Cranium bifidum occultum;HP:0004423	25105228;26706854		False	3	100;0;0	1.1	True		ENSG00000130449	ENSG00000130449	HGNC:29316