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													
PQBP1	gene	PQBP1	Expert Review Red;Literature	Kabuki syndrome	Kabuki	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Kabuki-like syndrome;intellectual disability;long triangular face;bulbous nose;hypoplastic malar region;micrognathia;partial agenesis of corpus callosum;spasticity;contractures				30244542		False	1	0;0;100	1.6	False		ENSG00000102103	ENSG00000102103	HGNC:9330													
RAP1A	gene	RAP1A	Expert Review;Expert Review Red	Kabuki syndrome	Kabuki	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Kabuki-like syndrome				PMID: 26280580		False	1	0;0;100	1.6	True		ENSG00000116473	ENSG00000116473	HGNC:9855													
RAP1B	gene	RAP1B	Expert Review;Expert Review Red	Kabuki syndrome	Kabuki	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kabuki-like syndrome				PMID: 26280580		False	1	0;0;100	1.6	True		ENSG00000127314	ENSG00000127314	HGNC:9857