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
ATL1	gene	ATL1	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Familial dysautonomia			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Neuropathy, hereditary sensory, type ID	613708"				21194679;22340599		False	1	50;0;50	1.18	False		ENSG00000198513	ENSG00000198513	HGNC:11231													
ATL3	gene	ATL3	Expert Review Red;Radboud University Medical Center, Nijmegen	Familial dysautonomia			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Neuropathy, hereditary sensory, type IF	615632"				24736309;24459106		False	1	50;0;50	1.18	False		ENSG00000184743	ENSG00000184743	HGNC:24526													
COQ2	gene	COQ2	Expert Review Red;Literature	Familial dysautonomia			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Multiple system atrophy, susceptibility to,  146500  				17420317		False	1	0;0;100	1.18	False		ENSG00000173085	ENSG00000173085	HGNC:25223													
DNMT1	gene	DNMT1	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial dysautonomia			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Neuropathy, hereditary sensory, type IE	614116"				21532572; 23365052		False	1	100;0;0	1.18	False		ENSG00000130816	ENSG00000130816	HGNC:2976													
DST	gene	DST	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial dysautonomia			BIALLELIC, autosomal or pseudoautosomal	"Neuropathy, hereditary sensory and autonomic, type VI	614653"				22522446;26043942;25195653;24381311		False	1	0;33;67	1.18	True		ENSG00000151914	ENSG00000151914	HGNC:1090													
MYO1H	gene	MYO1H	Expert Review Red;Literature	Familial dysautonomia			BIALLELIC, autosomal or pseudoautosomal	?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482				28779001		False	1	0;0;100	1.18	False		ENSG00000174527	ENSG00000174527	HGNC:13879													
TECPR2	gene	TECPR2	Expert Review Red;Radboud University Medical Center, Nijmegen	Familial dysautonomia			BIALLELIC, autosomal or pseudoautosomal	"Spastic paraplegia 49, autosomal recessive	615031"				23176824;26542466		False	1	100;0;0	1.18	False		ENSG00000196663	ENSG00000196663	HGNC:19957