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
CACNB4	gene	CACNB4	Expert Review Amber;Victorian Clinical Genetics Services	Alternating Hemiplegia and Hemiplegic Migraine		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia, type 5, MIM#613855				10762541;9628818;27003325		False	2	0;100;0	0.57	True		ENSG00000182389	ENSG00000182389	HGNC:1404													
CLDN5	gene	CLDN5	Expert Review Amber;Literature	Alternating Hemiplegia and Hemiplegic Migraine		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	alternating hemiplegia, MONDO:0016210, CLDN5-related				PMID: 35714222		False	2	0;100;0	0.57	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000184113	ENSG00000184113	HGNC:2047													
KCNA1	gene	KCNA1	Expert Review Amber;Victorian Clinical Genetics Services	Alternating Hemiplegia and Hemiplegic Migraine		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia/myokymia syndrome, MIM# 160120				25642194		False	2	0;100;0	0.57	True		ENSG00000111262	ENSG00000111262	HGNC:6218													
NOTCH3	gene	NOTCH3	Expert list;Expert Review Amber	Alternating Hemiplegia and Hemiplegic Migraine		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310				22250206;10356105;27881154;28271496		False	2	0;100;0	0.57	True		ENSG00000074181	ENSG00000074181	HGNC:7883