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
KCNK3	gene	KCNK3	Expert Review Green;Literature	Central Hypoventilation		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder, MONDO:0700092, KCNK3-related;developmental delay with sleep apnoea (DDSA)				36195757		False	3	100;0;0	1.5	True		ENSG00000171303	ENSG00000171303	HGNC:6278													
PHOX2B	gene	PHOX2B	Expert Review Green;Victorian Clinical Genetics Services	Central Hypoventilation		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880				20301600		False	3	100;0;0	1.5	True		ENSG00000109132	ENSG00000109132	HGNC:9143													
SLC52A2	gene	SLC52A2	Expert list;Expert Review Green	Central Hypoventilation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brown-Vialetto-Van Laere syndrome 2;614707				22864630;23243084		False	3	100;0;0	1.5	True		ENSG00000185803	ENSG00000185803	HGNC:30224													
SLC52A3	gene	SLC52A3	Expert list;Expert Review Green	Central Hypoventilation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Brown-Vialetto-Van Laere syndrome 1, MIM#	211530"						False	3	100;0;0	1.5	True		ENSG00000101276	ENSG00000101276	HGNC:16187													
ASCL1	gene	ASCL1	Expert Review Amber;Victorian Clinical Genetics Services	Central Hypoventilation		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, MIM# 209880				14532329		False	2	0;100;0	1.5	True		ENSG00000139352	ENSG00000139352	HGNC:738													
LBX1	gene	LBX1	Expert Review;Expert Review Amber	Central Hypoventilation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Central hypoventilation syndrome, congenital, 3, MIM#619483				30487221		False	2	0;100;0	1.5	True		ENSG00000138136	ENSG00000138136	HGNC:16960													
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