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;London North GLH;NHS GMS;Wessex and West Midlands GLH	Paroxysmal central nervous system disorders		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Episodic ataxia, type 5, 613855				10762541;18446307;https://n.neurology.org/content/86/16_Supplement/P5.391		False	2	14;86;0	4.3	True		ENSG00000182389	ENSG00000182389	HGNC:1404													
CSNK1D	gene	CSNK1D	Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH	Paroxysmal central nervous system disorders		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Advanced sleep-phase syndrome, familial, 2, OMIM:615224				25660813;23636092;15800623		False	2	40;60;0	4.3	True		ENSG00000141551	ENSG00000141551	HGNC:2452													
KCNK18	gene	KCNK18	Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH	Paroxysmal central nervous system disorders		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Migraine, with or without aura, susceptibility to, 13, 613656				20871611;22355750		False	2	0;80;20	4.3	True		ENSG00000186795	ENSG00000186795	HGNC:19439													
MOG	gene	MOG	Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH	Paroxysmal central nervous system disorders		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Narcolepsy 7, 614250				21907016		False	2	20;80;0	4.3	True		ENSG00000204655	ENSG00000204655	HGNC:7197													
PDE2A	gene	PDE2A	Expert Review Amber;London North GLH;NHS GMS	Paroxysmal central nervous system disorders		Neurology	BIALLELIC, autosomal or pseudoautosomal	infantile onset chorea predominant movement disorder				29392776		False	2	40;60;0	4.3	True		ENSG00000186642	ENSG00000186642	HGNC:8777													
SCN8A	gene	SCN8A	Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH	Paroxysmal central nervous system disorders		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Seizures, benign familial infantile, 5, OMIM:617080;Paroxysmal kinesigenic dyskinesias;?Myoclonus, familial, 2, OMIM:618364				26677014		False	2	0;60;40	4.3	False		ENSG00000196876	ENSG00000196876	HGNC:10596													
