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
AMTN	gene	AMTN	Expert Review Red;Genomics England PanelApp	Amelogenesis imperfecta		Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amelogenesis imperfecta, type IIIB				27412008;25715379;26620968		False	1	0;0;100	1.11	True	Other	ENSG00000187689	ENSG00000187689	HGNC:33188													
KCNJ1	gene	KCNJ1	Expert Review Red;Genomics England PanelApp	Amelogenesis imperfecta		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Amelogenesis Imperfecta;Bartter syndrome, type 2,  241200				23341834		False	1	0;0;100	1.11	True		ENSG00000151704	ENSG00000151704	HGNC:6255													
SMARCD2	gene	SMARCD2	Expert Review Red;Genomics England PanelApp	Amelogenesis imperfecta		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Specific granule deficiency 2, 617475				28369036		False	1	0;0;100	1.11	True		ENSG00000108604	ENSG00000108604	HGNC:11107													
TMEM165	gene	TMEM165	Expert Review Red;Genomics England PanelApp	Amelogenesis imperfecta		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIk, MIM# 614727;amelogenesis imperfecta				22683087		False	1	0;0;100	1.11	True		ENSG00000134851	ENSG00000134851	HGNC:30760													
TP63	gene	TP63	Expert Review Red;Genomics England PanelApp	Amelogenesis imperfecta		Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Split-hand/foot malformation 4, MIM# 605289				22065540		False	1	0;0;100	1.11	True		ENSG00000073282	ENSG00000073282	HGNC:15979