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
BAIAP2	gene	BAIAP2	Other	Malformations of cortical development		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	developmental and epileptic encephalopathy, MONDO:0100620;classic lissencephaly, MONDO:0015146				30696821;38149472;41133935		False	1	0;0;100	7.50	False		ENSG00000175866	ENSG00000175866	HGNC:947													
DLGAP4	gene	DLGAP4	Literature	Malformations of cortical development		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					35585091		False	1	0;0;100	7.50	False		ENSG00000080845	ENSG00000080845	HGNC:24476													
ENO1	gene	ENO1	Expert Review Red;Literature	Malformations of cortical development		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polymicrogyria, MONDO:0000087				32488097		False	1	0;0;100	7.50	False		ENSG00000074800	ENSG00000074800	HGNC:3350													
EOMES	gene	EOMES	Literature	Malformations of cortical development		Neurology	BIALLELIC, autosomal or pseudoautosomal	microcephaly syndrome				17353897		False	1	0;0;100	7.50	False		ENSG00000163508	ENSG00000163508	HGNC:3372													
ERMARD	gene	ERMARD	Expert Review Red;UKGTN	Malformations of cortical development		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Periventricular nodular heterotopia 6  615544  				24056535		False	1	0;0;100	7.50	True		ENSG00000130023	ENSG00000130023	HGNC:21056													
GMPPB	gene	GMPPB	Expert Review Red;Radboud University Medical Center, Nijmegen	Malformations of cortical development		Neurology	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14  615350  				23768512		False	1	0;0;100	7.50	True		ENSG00000173540	ENSG00000173540	HGNC:22932													
MCF2	gene	MCF2	Expert Review Red;Literature	Malformations of cortical development		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Perisylvian polymicrogyria;bilateral perisylvian polymicrogyria, MONDO:0020340				31846234		False	1	0;0;100	7.50	False		ENSG00000101977	ENSG00000101977	HGNC:6940													
PEX11A	gene	PEX11A	Literature	Malformations of cortical development		Neurology	Unknown	Zellweger syndrome;peroxisome proliferation;mild peroxisomal biogenesis defect				25177298;10716247;11839773;25608554		False	1	0;0;100	7.50	False		ENSG00000166821	ENSG00000166821	HGNC:8852													
PEX7	gene	PEX7	Expert Review Red;Literature;NHS GMS	Malformations of cortical development		Neurology	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders);Peroxisome biogenesis disorder 9B, 614879;Rhizomelic chondrodysplasia punctata, type 1, 215100				27604308		False	1	33;0;67	7.50	False		ENSG00000112357	ENSG00000112357	HGNC:8860													
POMK	gene	POMK	Expert Review Red;Literature	Malformations of cortical development		Neurology	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12  615249  				24925318		False	1	0;100;0	7.50	True		ENSG00000185900	ENSG00000185900	HGNC:26267													
TSC2	gene	TSC2	Expert Review Red;Literature	Malformations of cortical development		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Focal cortical dysplasia, type II, somatic 607341				28215400;19175396		False	1	0;0;0	7.50	False	Other - please provide details in the comments	ENSG00000103197	ENSG00000103197	HGNC:12363