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
ANKRD11	gene	ANKRD11	Expert Review Red;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"KBG syndrome, MIM#	148050"				33461977		False	1	0;0;100	1.16	True		ENSG00000167522	ENSG00000167522	HGNC:21316													
BRCA2	gene	BRCA2	Expert Review Red;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Fanconi anemia, complementation group D1, MIM#	605724"						False	1	0;0;100	1.16	True		ENSG00000139618	ENSG00000139618	HGNC:1101													
CDKN1C	gene	CDKN1C	Expert Review Red;Victorian Clinical Genetics Services	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	Unknown	Beckwith-Wiedemann syndrome, MIM# 130650						False	1	0;0;100	1.16	True		ENSG00000129757	ENSG00000129757	HGNC:1786													
DLL3	gene	DLL3	Expert Review Red;Victorian Clinical Genetics Services	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300						False	1	0;0;100	1.16	True		ENSG00000090932	ENSG00000090932	HGNC:2909													
FOXC2	gene	FOXC2	Expert Review Red;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Lymphedema-distichiasis syndrome, MIM#	153400"				33461977;27663689		False	1	0;0;100	1.16	True		ENSG00000176692	ENSG00000176692	HGNC:3801													
FOXP1	gene	FOXP1	Expert Review Red;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Mental retardation with language impairment and with or without autistic features, MIM#	613670"				33461977		False	1	0;0;100	1.16	True		ENSG00000114861	ENSG00000114861	HGNC:3823													
HDAC8	gene	HDAC8	Expert Review Red;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 5, MIM# 300882				30614194;24403048		False	1	0;0;100	1.16	True		ENSG00000147099	ENSG00000147099	HGNC:13315													
LONP1	gene	LONP1	Expert Review Red;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital diaphragmatic hernia				34547244		False	1	0;0;100	1.16	True		ENSG00000196365	ENSG00000196365	HGNC:9479													
MCPH1	gene	MCPH1	Expert Review Red;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Microcephaly 1, primary, autosomal recessive, MIM#	251200"				33461977		False	1	0;0;100	1.16	True		ENSG00000147316	ENSG00000147316	HGNC:6954													
NSD1	gene	NSD1	Expert Review Red;Victorian Clinical Genetics Services	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sotos syndrome 1, MIM# 117550				29966037		False	1	0;0;100	1.16	True		ENSG00000165671	ENSG00000165671	HGNC:14234													
PDHA1	gene	PDHA1	Expert Review Red;Literature	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)	"Pyruvate dehydrogenase E1-alpha deficiency, MIM#	312170"				33461977		False	1	0;0;100	1.16	True		ENSG00000131828	ENSG00000131828	HGNC:8806													
RASA1	gene	RASA1	Expert Review Red;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Capillary malformation-arteriovenous malformation 1, MIM#	608354"				33461977		False	1	0;0;100	1.16	True		ENSG00000145715	ENSG00000145715	HGNC:9871													
SMARCA4	gene	SMARCA4	Expert Review Red;Literature	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Coffin-Siris syndrome 4, MIM#	614609"				33461977		False	1	0;0;100	1.16	True		ENSG00000127616	ENSG00000127616	HGNC:11100													
TRRAP	gene	TRRAP	Expert list;Expert Review Red	Congenital diaphragmatic hernia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Developmental delay with or without dysmorphic facies and autism, MIM#	618454"				30827496		False	1	0;0;100	1.16	True		ENSG00000196367	ENSG00000196367	HGNC:12347