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
ERCC6	gene	ERCC6	Emory Genetics Laboratory;Expert Review Red	Intracerebral calcification disorders	Parenchymal brain disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intercranial  Calcifications				PMID: 7063265		False	1	0;0;0	1.37	False		ENSG00000225830	ENSG00000225830	HGNC:3438													
MAT1A	gene	MAT1A	Emory Genetics Laboratory;Expert Review Red	Intracerebral calcification disorders	Parenchymal brain disorders	Neurology and neurodevelopmental disorders		Calcifications in basal ganglia;Methionine adenosyltransferase deficiency, autosomal recessive				8770875		False	1	0;0;0	1.37	False		ENSG00000151224	ENSG00000151224	HGNC:6903													
PCDH12	gene	PCDH12	Expert Review	Intracerebral calcification disorders	Parenchymal brain disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	intellectual disability;microcephaly;epilepsy;perithalamic hyperechogenicity;periventricular hyperechogenicity;midbrain abnormalities;hypothalamic abnormalities				27164683		False	1	0;0;100	1.37	False		ENSG00000113555	ENSG00000113555	HGNC:8657													
SCN2A	gene	SCN2A	Literature	Intracerebral calcification disorders	Parenchymal brain disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3				PMID:24579881		False	1	0;0;100	1.37	False		ENSG00000136531	ENSG00000136531	HGNC:10588													
SNORD118	gene	SNORD118	Expert list	Intracerebral calcification disorders	Parenchymal brain disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	614561				27571260;28177126		False	1	0;100;0	1.37	False	Other - please provide details in the comments	ENSG00000200463	ENSG00000200463	HGNC:32952