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
BDNF	gene	BDNF	Expert Review Red;Victorian Clinical Genetics Services	Central Hypoventilation		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, MIM#209880						False	1	0;0;100	1.5	True		ENSG00000176697	ENSG00000176697	HGNC:1033													
EDN3	gene	EDN3	Expert Review Red;Victorian Clinical Genetics Services	Central Hypoventilation		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, MIM# 209880				8696331		False	1	0;0;100	1.5	True		ENSG00000124205	ENSG00000124205	HGNC:3178													
GDNF	gene	GDNF	Expert Review Red;Victorian Clinical Genetics Services	Central Hypoventilation		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, MIM# 209880						False	1	0;0;100	1.5	True		ENSG00000168621	ENSG00000168621	HGNC:4232													
MYO1H	gene	MYO1H	Expert Review Red;Literature	Central Hypoventilation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482				28779001		False	1	0;0;100	1.5	True		ENSG00000174527	ENSG00000174527	HGNC:13879													
RET	gene	RET	Expert Review Red;Victorian Clinical Genetics Services	Central Hypoventilation		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, MIM#209880				18438890;16443855;12566528;12086152		False	1	0;0;100	1.5	True		ENSG00000165731	ENSG00000165731	HGNC:9967