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
RPS6	gene	RPS6	Expert list;Expert Review Red;NHS GMS	Mosaic brain disorders - deep sequencing		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hemimegalencephaly, severe intellectual disability, intractable seizures and hypochromic skin patches				31411685		False	1	0;0;100	0.149	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000137154	ENSG00000137154	HGNC:10429													
TBC1D7	gene	TBC1D7	Expert list;Expert Review Red;NHS GMS	Mosaic brain disorders - deep sequencing		Neurology	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000				23687350;24515783		False	1	0;0;100	0.149	False		ENSG00000145979	ENSG00000145979	HGNC:21066