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
ALPL	gene	ALPL	Expert Review Red;Victorian Clinical Genetics Services	Neurotransmitter Defects		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypophosphatasia			Abnormal CSF metabolite concentration;HP:0025454			False	1	0;0;100	1.7	True		ENSG00000162551	ENSG00000162551	HGNC:438													
ARHGEF9	gene	ARHGEF9	Expert Review Red;Victorian Clinical Genetics Services	Neurotransmitter Defects		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Epileptic encephalopathy, early infantile, 8, MIM# 300607			Abnormal CSF metabolite concentration;HP:0025454	31942680;30048823;29130122;28620718		False	1	0;0;100	1.7	True		ENSG00000131089	ENSG00000131089	HGNC:14561													
GPHN	gene	GPHN	Expert Review Red;Victorian Clinical Genetics Services	Neurotransmitter Defects		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency C, MIM# 615501			Abnormal CSF metabolite concentration;HP:0025454			False	1	0;0;100	1.7	True		ENSG00000171723	ENSG00000171723	HGNC:15465													
SLC25A22	gene	SLC25A22	Expert Review Red;Victorian Clinical Genetics Services	Neurotransmitter Defects		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 3, MIM# 609304			Abnormal CSF metabolite concentration;HP:0025454			False	1	0;0;100	1.7	True		ENSG00000177542	ENSG00000177542	HGNC:19954