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
ARID1A	gene	ARID1A	Expert Review Amber;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 2 #614607			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	35885948		False	2	25;75;0	1.17	True		ENSG00000117713	ENSG00000117713	HGNC:11110													
CNOT1	gene	CNOT1	Expert Review Amber;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	PMID: 31006513		False	2	67;33;0	1.17	True		ENSG00000125107	ENSG00000125107	HGNC:7877													
PLCH1	gene	PLCH1	Expert Review Amber;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Holoprosencephaly 14, MIM#	619895"			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	33820834		False	2	0;100;0	1.17	True		ENSG00000114805	ENSG00000114805	HGNC:29185													
PRDM15	gene	PRDM15	Expert Review Amber;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Holoprosenephaly;Steroid resistant nephrotic syndrome;Multiple congenital anomalies			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	31950080		False	2	0;100;0	1.17	True		ENSG00000141956	ENSG00000141956	HGNC:13999													
SOX2	gene	SOX2	Expert Review Amber;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Optic nerve hypoplasia and abnormalities of the central nervous system #206900;Microphthalmia, syndromic 3 #206900			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	35885948		False	2	0;100;0	1.17	True		ENSG00000181449	ENSG00000181449	HGNC:11195													
STIL	gene	STIL	Expert Review Amber;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 7, primary, autosomal recessive, MIM# 612703			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	25218063		False	2	50;0;50	1.17	True		ENSG00000123473	ENSG00000123473	HGNC:10879