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
COL3A1	gene	COL3A1	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343				28742248;19455184;25205403		False	3	100;0;0	1.1	True		ENSG00000168542	ENSG00000168542	HGNC:2201													
FKRP	gene	FKRP	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153						False	3	100;0;0	1.1	True		ENSG00000181027	ENSG00000181027	HGNC:17997													
FKTN	gene	FKTN	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800						False	3	100;0;0	1.1	True		ENSG00000106692	ENSG00000106692	HGNC:3622													
LAMA2	gene	LAMA2	Expert Review Green;Literature	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855				32827036		False	3	100;0;0	1.1	True		ENSG00000196569	ENSG00000196569	HGNC:6482													
LAMB1	gene	LAMB1	Expert Review;Expert Review Green	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Lissencephaly 5, MIM#	615191"				23472759;25925986		False	3	100;0;0	1.1	True		ENSG00000091136	ENSG00000091136	HGNC:6486													
LARGE1	gene	LARGE1	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154						False	3	100;0;0	1.1	True		ENSG00000133424	ENSG00000133424	HGNC:6511													
POMGNT1	gene	POMGNT1	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280						False	3	100;0;0	1.1	True		ENSG00000085998	ENSG00000085998	HGNC:19139													
POMGNT2	gene	POMGNT2	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830						False	3	100;0;0	1.1	True		ENSG00000144647	ENSG00000144647	HGNC:25902													
POMT1	gene	POMT1	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670						False	3	100;0;0	1.1	True		ENSG00000130714	ENSG00000130714	HGNC:9202													
POMT2	gene	POMT2	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150						False	3	100;0;0	1.1	True		ENSG00000009830	ENSG00000009830	HGNC:19743													
TMEM5	gene	TMEM5	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041				23217329;23519211		False	3	100;0;0	1.1	True		ENSG00000118600	ENSG00000118600	HGNC:13530													
TMTC3	gene	TMTC3	Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 8 (MIM#617255)				27773428;28973161		False	3	100;0;0	1.1	True		ENSG00000139324	ENSG00000139324	HGNC:26899													
DAG1	gene	DAG1	Expert Review Red;Literature	Cobblestone Malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Walker-Warburg syndrome associated with tectocerebellar dysraphia;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9	(MIM#616538)"				29337005		False	1	0;0;100	1.1	True		ENSG00000173402	ENSG00000173402	HGNC:2666