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
ALG12	gene	ALG12	Expert Review Amber;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Congenital disorder of glycosylation, type Ig, MIM#	607143"				33461977		False	2	0;100;0	1.16	True		ENSG00000182858	ENSG00000182858	HGNC:19358													
CHD7	gene	CHD7	Expert Review Amber;Victorian Clinical Genetics Services	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARGE syndrome, MIM# 214800				17576576;24185968		False	2	0;100;0	1.16	True		ENSG00000171316	ENSG00000171316	HGNC:20626													
FOXP4	gene	FOXP4	Expert Review Amber;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder;multiple congenital abnormalities				33110267		False	2	0;100;0	1.16	True		ENSG00000137166	ENSG00000137166	HGNC:20842													
FREM1	gene	FREM1	Expert Review Amber;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Congenital diaphragmatic hernia				32016392		False	2	0;100;0	1.16	True		ENSG00000164946	ENSG00000164946	HGNC:23399													
KDM6A	gene	KDM6A	Expert Review Amber;Victorian Clinical Genetics Services	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Kabuki syndrome 2, MIM# 300867						False	2	0;100;0	1.16	True		ENSG00000147050	ENSG00000147050	HGNC:12637													
OFD1	gene	OFD1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209				16783569;27589329		False	2	0;100;0	1.16	True		ENSG00000046651	ENSG00000046651	HGNC:2567													
SLIT3	gene	SLIT3	Expert Review Amber;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Congenital diaphragmatic hernia				33933663		False	2	0;100;0	1.16	True		ENSG00000184347	ENSG00000184347	HGNC:11087													
SMC1A	gene	SMC1A	Expert Review Amber;Victorian Clinical Genetics Services	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Cornelia de Lange syndrome 2, MIM# 300590						False	2	0;100;0	1.16	True		ENSG00000072501	ENSG00000072501	HGNC:11111													
SMC3	gene	SMC3	Expert Review Amber;Victorian Clinical Genetics Services	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 3, MIM# 610759						False	2	0;100;0	1.16	True		ENSG00000108055	ENSG00000108055	HGNC:2468