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
CDON	gene	CDON	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 11, MIM# 614226;MONDO:0013642			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	21802063;26529631;26728615;23071453		False	3	100;0;0	1.17	True		ENSG00000064309	ENSG00000064309	HGNC:17104													
DHCR7	gene	DHCR7	Expert list;Expert Review Green;NHS GMS	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome, 270400;alobar holoprosencephaly (HPE)			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	11562938;28805615;20104611;17001700		False	3	100;0;0	1.17	True		ENSG00000172893	ENSG00000172893	HGNC:2860													
DISP1	gene	DISP1	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Holoprosencephaly, MONDO:0016296			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	19184110;26748417;23542665;38529886		False	3	50;50;0	1.17	True	Other	ENSG00000154309	ENSG00000154309	HGNC:19711													
FGF8	gene	FGF8	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly;MONDO:0016296			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	27363716;29584859		False	3	50;50;0	1.17	True		ENSG00000107831	ENSG00000107831	HGNC:3686													
FGFR1	gene	FGFR1	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hartsfield syndrome, MIM# 615465			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842			False	3	100;0;0	1.17	True		ENSG00000077782	ENSG00000077782	HGNC:3688													
GLI2	gene	GLI2	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 9, MIM# 610829;MONDO:0012563			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	14581620;17096318;33235745;27585885		False	3	100;0;0	1.17	True		ENSG00000074047	ENSG00000074047	HGNC:4318													
HESX1	gene	HESX1	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Septooptic dysplasia, MIM# 182230			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842			False	3	100;0;0	1.17	True		ENSG00000163666	ENSG00000163666	HGNC:4877													
KMT2D	gene	KMT2D	Expert Review Green;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Kabuki syndrome 1, MIM#	147920"			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	31846209;31282990;32773771		False	3	100;0;0	1.17	True		ENSG00000167548	ENSG00000167548	HGNC:7133													
PPP1R12A	gene	PPP1R12A	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;holoprosencephaly;disorder of sex development			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	31883643		False	3	100;0;0	1.17	True		ENSG00000058272	ENSG00000058272	HGNC:7618													
PTCH1	gene	PTCH1	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 7, MIM# 610828			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	11941477;17001668;29575684		False	3	100;0;0	1.17	True		ENSG00000185920	ENSG00000185920	HGNC:9585													
RAD21	gene	RAD21	Expert Review Green;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly;Septo-optic dysplasia			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	31334757;32696056		False	3	100;0;0	1.17	True		ENSG00000164754	ENSG00000164754	HGNC:9811													
SHH	gene	SHH	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 3 (MIM#142945)			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	22791840;19057928		False	3	100;0;0	1.17	True		ENSG00000164690	ENSG00000164690	HGNC:10848													
SIX3	gene	SIX3	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 2, MIM# 157170;MONDO:0007999			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	10369266;16323008;19346217		False	3	100;0;0	1.17	True		ENSG00000138083	ENSG00000138083	HGNC:10889													
SMC1A	gene	SMC1A	Expert Review Green;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	Other	"Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM#	301044"			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	31334757;28166369		False	3	100;0;0	1.17	True		ENSG00000072501	ENSG00000072501	HGNC:11111													
STAG2	gene	STAG2	Expert Review Green;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	Other	"Holoprosencephaly 13, X-linked, MIM#	301043"			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	31334757		False	3	100;0;0	1.17	True		ENSG00000101972	ENSG00000101972	HGNC:11355													
TGIF1	gene	TGIF1	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 4, MIM# 142946;MONDO:0007734			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	10835638;16323008		False	3	100;0;0	1.17	True		ENSG00000177426	ENSG00000177426	HGNC:11776													
ZIC2	gene	ZIC2	Expert Review Green;Victorian Clinical Genetics Services	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 5, MIM# 609637;MONDO:0012322			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	9771712;11285244		False	3	100;0;0	1.17	True		ENSG00000043355	ENSG00000043355	HGNC:12873													
ZRSR2	gene	ZRSR2	Expert Review;Expert Review Green;Literature	Holoprosencephaly and septo-optic dysplasia		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Orofaciodigital syndrome XXI, MIM# 301132			Holoprosencephaly;HP:0001360; Septo-optic dysplasia;HP:0100842	38158857		False	3	100;0;0	1.17	True		ENSG00000169249	ENSG00000169249	HGNC:23019