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
CDK5	gene	CDK5	Expert list;Expert Review Amber	Lissencephaly and Band Heterotopia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Lissencephaly 7 with cerebellar hypoplasia, MIM#	616342"				25560765;32273484;32097629;28854363;7490100		False	2	0;100;0	1.21	True		ENSG00000164885	ENSG00000164885	HGNC:1774													
CSNK2A1	gene	CSNK2A1	Expert Review Amber;Literature	Lissencephaly and Band Heterotopia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Okur-Chung neurodevelopmental syndrome	(MIM#617062)"				27048600;29240241		False	2	0;100;0	1.21	True		ENSG00000101266	ENSG00000101266	HGNC:2457													
GMPPB	gene	GMPPB	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services	Lissencephaly and Band Heterotopia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350);Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351);Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)				23768512;30257713;26310427;24780531		False	2	0;100;0	1.21	True		ENSG00000173540	ENSG00000173540	HGNC:22932													
MFN2	gene	MFN2	Expert Review Amber;Literature	Lissencephaly and Band Heterotopia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial disease, MONDO:0044970, MFN2-related				PMID: 37804319		False	2	0;100;0	1.21	True		ENSG00000116688	ENSG00000116688	HGNC:16877													
NSDHL	gene	NSDHL	Expert Review Amber;Literature	Lissencephaly and Band Heterotopia		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	CK syndrome 300831				19377476;19842190;21129721		False	2	0;100;0	1.21	True		ENSG00000147383	ENSG00000147383	HGNC:13398													
TMX2	gene	TMX2	Expert Review Amber;Literature	Lissencephaly and Band Heterotopia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730				31735293;31586943		False	2	0;100;0	1.21	True		ENSG00000213593	ENSG00000213593	HGNC:30739