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
ARF1	gene	ARF1	Expert list;Expert Review Green	Periventricular Grey Matter Heterotopia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Periventricular nodular heterotopia 8, MIM#	618185"			Grey matter heterotopia;HP:0002282	28868155		False	3	100;0;0	1.2	True		ENSG00000143761	ENSG00000143761	HGNC:652													
ARFGEF2	gene	ARFGEF2	Australian Genomics Health Alliance Brain Malformation Flagship;Expert Review Green;Victorian Clinical Genetics Services	Periventricular Grey Matter Heterotopia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Periventricular heterotopia with microcephaly (MIM#608097)			Grey matter heterotopia;HP:0002282	25160555;26126837;23812912		False	3	100;0;0	1.2	True		ENSG00000124198	ENSG00000124198	HGNC:15853													
DCHS1	gene	DCHS1	Australian Genomics Health Alliance Brain Malformation Flagship;Expert Review Green;Victorian Clinical Genetics Services	Periventricular Grey Matter Heterotopia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Van Maldergem syndrome 1, MIM# 601390			Grey matter heterotopia;HP:0002282	24056717;29046692		False	3	100;0;0	1.2	True		ENSG00000166341	ENSG00000166341	HGNC:13681													
FLNA	gene	FLNA	Australian Genomics Health Alliance Brain Malformation Flagship;Expert Review Green;Victorian Clinical Genetics Services	Periventricular Grey Matter Heterotopia		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Heterotopia, periventricular, 1 , MIM#300049			Grey matter heterotopia;HP:0002282	9883725;15668422;15994863		False	3	100;0;0	1.2	True		ENSG00000196924	ENSG00000196924	HGNC:3754													
HNRNPK	gene	HNRNPK	Expert Review Green;Literature	Periventricular Grey Matter Heterotopia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Au-Kline syndrome MIM#616580			Grey matter heterotopia;HP:0002282			False	3	100;0;0	1.2	True		ENSG00000165119	ENSG00000165119	HGNC:5044													
MAP1B	gene	MAP1B	Australian Genomics Health Alliance Brain Malformation Flagship;Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Periventricular Grey Matter Heterotopia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual disability;seizures;PVNH;dysmorphic features;Periventricular nodular heterotopia 9, MIM# 618918			Grey matter heterotopia;HP:0002282	31317654;30150678;30214071		False	3	100;0;0	1.2	True		ENSG00000131711	ENSG00000131711	HGNC:6836													
NEDD4L	gene	NEDD4L	Australian Genomics Health Alliance Brain Malformation Flagship;Expert Review Green;Victorian Clinical Genetics Services	Periventricular Grey Matter Heterotopia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Periventricular nodular heterotopia 7, MIM# 617201			Grey matter heterotopia;HP:0002282	34087865;27694961;32117442		False	3	100;0;0	1.2	True		ENSG00000049759	ENSG00000049759	HGNC:7728