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
ACTB	gene	ACTB	Expert Review Green;Victorian Clinical Genetics Services	Kabuki syndrome		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	3	0;0;0	0.15	False		ENSG00000075624	ENSG00000075624	HGNC:132													
CDK13	gene	CDK13	Expert Review;Expert Review Green	Kabuki syndrome		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360				29021403;29393965;30904094		False	3	100;0;0	0.15	True		ENSG00000065883	ENSG00000065883	HGNC:1733													
EBF3	gene	EBF3	Expert Review Green;Victorian Clinical Genetics Services	Kabuki syndrome		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	3	0;0;0	0.15	False		ENSG00000108001	ENSG00000108001	HGNC:19087													
HNRNPK	gene	HNRNPK	Expert Review Green;Victorian Clinical Genetics Services	Kabuki syndrome		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	3	0;0;0	0.15	False		ENSG00000165119	ENSG00000165119	HGNC:5044													
KDM6A	gene	KDM6A	Expert Review Green;Victorian Clinical Genetics Services	Kabuki syndrome		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)							False	3	0;0;0	0.15	False		ENSG00000147050	ENSG00000147050	HGNC:12637													
KMT2D	gene	KMT2D	Expert Review Green;Victorian Clinical Genetics Services	Kabuki syndrome		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	3	0;0;0	0.15	False		ENSG00000167548	ENSG00000167548	HGNC:7133													
RAP1A	gene	RAP1A	Expert Review Amber;Victorian Clinical Genetics Services	Kabuki syndrome		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kabuki syndrome				26280580		False	2	0;100;0	0.15	True		ENSG00000116473	ENSG00000116473	HGNC:9855													
RAP1B	gene	RAP1B	Expert Review Amber;Victorian Clinical Genetics Services	Kabuki syndrome		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654;Kabuki-like syndrome				26280580		False	2	0;100;0	0.15	True		ENSG00000127314	ENSG00000127314	HGNC:9857