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
AP2S1	gene	AP2S1	Expert Review Green;Victorian Clinical Genetics Services	Familial hypocalciuric hypercalcaemia	Calcium disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypocalciuric hypercalcaemia, type III, MIM# 600740;MONDO:0010926			Hypocalciuria;HP:0003127; Hypercalcemia;HP:0003072	23222959;33729479;33168530;3204769;31723423;29479578		False	3	100;0;0	0.7	True		ENSG00000042753	ENSG00000042753	HGNC:565													
CASR	gene	CASR	Expert Review Green;Genomics England PanelApp	Familial hypocalciuric hypercalcaemia	Calcium disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial hypocalciuric hypercalcemia 1, MONDO:0007791			Hypocalciuria;HP:0003127; Hypercalcemia;HP:0003072	7916660,19423559,9011580,7717399,17698911,7726161		False	3	100;0;0	0.7	True		ENSG00000036828	ENSG00000036828	HGNC:1514													
GNA11	gene	GNA11	Expert Review Green;Victorian Clinical Genetics Services	Familial hypocalciuric hypercalcaemia	Calcium disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypocalciuric hypercalcaemia, type II, MIM# 145981;MONDO:0007792			Hypocalciuria;HP:0003127; Hypercalcemia;HP:0003072	23802516;28833550;27913609		False	3	100;0;0	0.7	True		ENSG00000088256	ENSG00000088256	HGNC:4379