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
AKT3	gene	AKT3	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937				22729224;22729223;32446860;31441589		False	3	100;0;0	0.48	True	Other	ENSG00000117020	ENSG00000117020	HGNC:393													
CNTNAP2	gene	CNTNAP2	Expert Review;Expert Review Green	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia-focal epilepsy syndrome, MIM# 610042				16571880;19896112;27439707		False	3	100;0;0	0.48	True		ENSG00000174469	ENSG00000174469	HGNC:13830													
DEPDC5	gene	DEPDC5	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, familial focal, with variable foci 1 (MIM#604364)				31444548		False	3	100;0;0	0.48	True		ENSG00000100150	ENSG00000100150	HGNC:18423													
MTOR	gene	MTOR	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Smith-Kingsmore syndrome, MIM# 616638				28892148		False	3	100;0;0	0.48	True		ENSG00000198793	ENSG00000198793	HGNC:3942													
NPRL2	gene	NPRL2	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, familial focal, with variable foci 2- MIM#617116				29281825;27173016;31625153;33461085		False	3	50;50;0	0.48	True		ENSG00000114388	ENSG00000114388	HGNC:24969													
NPRL3	gene	NPRL3	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, familial focal, with variable foci 3 (MIM#617118)				27173016;26285051		False	3	100;0;0	0.48	True		ENSG00000103148	ENSG00000103148	HGNC:14124													
PTEN	gene	PTEN	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cowden syndrome 1 158350;Lhermitte-Duclos syndrome 158350;Macrocephaly/autism syndrome 605309				32162846		False	3	100;0;0	0.48	True		ENSG00000171862	ENSG00000171862	HGNC:9588													
SLC35A2	gene	SLC35A2	Expert Review Green;Literature	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		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)	Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)				PMID: 33407896		False	3	100;0;0	0.48	True		ENSG00000102100	ENSG00000102100	HGNC:11022													
TSC1	gene	TSC1	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis-1, 191100;Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341				32917966		False	3	100;0;0	0.48	True		ENSG00000165699	ENSG00000165699	HGNC:12362													
TSC2	gene	TSC2	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis-2, MIM# 613254						False	3	100;0;0	0.48	True		ENSG00000103197	ENSG00000103197	HGNC:12363