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
KDM6A	gene	KDM6A	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Kabuki syndrome	Kabuki	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;Kabuki Syndrome Type 2				PMID: 24527667;24664873;22197486;22197486;23076834;24633898;24664873		False	3	100;0;0	1.6	True		ENSG00000147050	ENSG00000147050	HGNC:12637													
KMT2D	gene	KMT2D	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN	Kabuki syndrome	Kabuki	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kabuki syndrome 1, OMIM:147920				PMID: 22126750;22901312;20711175;21671394;21607748;24633898		False	3	100;0;0	1.6	True		ENSG00000167548	ENSG00000167548	HGNC:7133