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
DLL1	gene	DLL1	Expert Review Red;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	31353024		False	1	0;0;100	1.17	True		ENSG00000198719	ENSG00000198719	HGNC:2908													
GAS1	gene	GAS1	Expert Review Red;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	21842183;20583177		False	1	0;0;100	1.17	True		ENSG00000180447	ENSG00000180447	HGNC:4165													
GLI3	gene	GLI3	Expert Review Red;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pallister-Hall syndrome, MIM# 146510			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	24736735		False	1	67;0;33	1.17	True		ENSG00000106571	ENSG00000106571	HGNC:4319													
NODAL	gene	NODAL	Expert Review Red;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heterotaxy, visceral, 5 (MIM#270100)			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	9354794;19064609		False	1	0;0;100	1.17	True		ENSG00000156574	ENSG00000156574	HGNC:7865													
SCN7A	gene	SCN7A	Expert Review Red;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Holoprosencephaly			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	32732226		False	1	0;0;100	1.17	True		ENSG00000136546	ENSG00000136546	HGNC:10594													
TDGF1	gene	TDGF1	Expert Review Red;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Forebrain abnormalities			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	12073012		False	1	0;0;100	1.17	True		ENSG00000241186	ENSG00000241186	HGNC:11701