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
ATN1	gene	ATN1	Expert Review Red;Other	Brain channelopathy	Channelopathies	Neurology and neurodevelopmental disorders	Other	Dentatorubral-pallidoluysian atrophy, OMIM:125370						False	1	0;0;100	1.83	True	Other - please provide details in the comments	ENSG00000111676	ENSG00000111676	HGNC:3033													
HTT	gene	HTT	Expert Review;Expert Review Red	Brain channelopathy	Channelopathies	Neurology and neurodevelopmental disorders	Other	Huntington disease, OMIM:143100						False	1	0;0;100	1.83	True	Other - please provide details in the comments	ENSG00000197386	ENSG00000197386	HGNC:4851													
NKX2-1	gene	NKX2-1	Expert Review;Expert Review Red	Brain channelopathy	Channelopathies	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978"				 24555207		False	1	100;0;0	1.83	True		ENSG00000136352	ENSG00000136352	HGNC:11825													
SCN9A	gene	SCN9A	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Brain channelopathy	Channelopathies	Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Erythermalgia, primary, 133020;Insensitivity to pain, channelopathy-associated, 243000;Paroxysmal extreme pain disorder, 167400;Febrile seizures, familial, 3B, 613863;Epilepsy, generalized, with febrile seizures plus, type 7, 613863;Congenital Indifference to Pain;Dysosteosclerosis;Erythermalgia, Primary;Paroxysmal Extreme Pain Disorder;Hereditary Sensory Neuropathy						False	1	0;0;0	1.83	True		ENSG00000169432	ENSG00000169432	HGNC:10597