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
CEP83	gene	CEP83	Expert Review Red;Literature	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 18, MIM# 615862			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	39219159		False	1	0;0;100	0.195	True		ENSG00000173588	ENSG00000173588	HGNC:17966													
DAG1	gene	DAG1	Expert Review Red;Literature	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	24052401		False	1	0;0;100	0.195	True		ENSG00000173402	ENSG00000173402	HGNC:2666													
ENO1	gene	ENO1	Expert Review Red;Literature	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polymicrogyria, MONDO:0000087, ENO1-related			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	32488097		False	1	0;0;100	0.195	True		ENSG00000074800	ENSG00000074800	HGNC:3350													
EOMES	gene	EOMES	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Red;Victorian Clinical Genetics Services	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, MONDO:0001149, EOMES-related			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	17353897		False	1	0;0;100	0.195	True		ENSG00000163508	ENSG00000163508	HGNC:3372													
INTS8	gene	INTS8	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Red;Victorian Clinical Genetics Services	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	28542170		False	1	0;0;100	0.195	True		ENSG00000164941	ENSG00000164941	HGNC:26048													
MCF2	gene	MCF2	Expert Review Red;Literature	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Perisylvian polymicrogyria			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	31846234		False	1	0;0;100	0.195	True		ENSG00000101977	ENSG00000101977	HGNC:6940													
PEX11B	gene	PEX11B	Expert Review Red;Literature	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"?Peroxisome biogenesis disorder 14B	(MIM#614920)"			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	22581968		False	1	0;0;100	0.195	True		ENSG00000131779	ENSG00000131779	HGNC:8853													
SHH	gene	SHH	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Red;Victorian Clinical Genetics Services	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Schizencephaly (MIM#269160)			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	19533790		False	1	0;0;100	0.195	True		ENSG00000164690	ENSG00000164690	HGNC:10848													
SIX3	gene	SIX3	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Red;Victorian Clinical Genetics Services	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown				Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	20157829		False	1	0;100;0	0.195	True		ENSG00000138083	ENSG00000138083	HGNC:10889													
SRD5A3	gene	SRD5A3	Expert Review Red;Literature	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Iq (MIM#612379)			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	18271001;20637498;31638560;27480077		False	1	0;0;100	0.195	True		ENSG00000128039	ENSG00000128039	HGNC:25812													
SRPX2	gene	SRPX2	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Red;Victorian Clinical Genetics Services	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	16497722;23933820;23871722		False	1	0;0;100	0.195	True		ENSG00000102359	ENSG00000102359	HGNC:30668													
TMEM216	gene	TMEM216	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Red;Victorian Clinical Genetics Services	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 2 (MIM#608091)			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	20512146		False	1	0;0;100	0.195	True		ENSG00000187049	ENSG00000187049	HGNC:25018													
TUBA8	gene	TUBA8	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Red;Victorian Clinical Genetics Services	Polymicrogyria and Schizencephaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180			Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636	19896110;31481326;28388629		False	1	0;0;100	0.195	True		ENSG00000183785	ENSG00000183785	HGNC:12410