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	Hypercalcaemia		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypocalciuric hypercalcaemia, type III, MIM# 600740;MONDO:0010926			Hypercalcemia;HP:0003072	23222959;33729479;33168530;3204769;31723423;29479578		False	3	100;0;0	1.2	True		ENSG00000042753	ENSG00000042753	HGNC:565													
CASR	gene	CASR	Expert Review Green;Victorian Clinical Genetics Services	Hypercalcaemia		Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypocalciuric hypercalcaemia, type I, MIM# 145980;Hyperparathyroidism, neonatal, MIM# 239200			Hypercalcemia;HP:0003072	7916660;7726161;8675635;17698911		False	3	100;0;0	1.2	True		ENSG00000036828	ENSG00000036828	HGNC:1514													
CDC73	gene	CDC73	Expert Review Green;Victorian Clinical Genetics Services	Hypercalcaemia		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperparathyroidism-jaw tumour syndrome, MIM# 145001;Hyperparathyroidism, familial primary, MIM# 145000			Hypercalcemia;HP:0003072	12434154		False	3	100;0;0	1.2	True		ENSG00000134371	ENSG00000134371	HGNC:16783													
CDKN1B	gene	CDKN1B	Expert Review Green;Literature	Hypercalcaemia		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Multiple endocrine neoplasia type 4, MEN4, OMIM #610755			Hypercalcemia;HP:0003072	24819502;17030811;23555276		False	3	100;0;0	1.2	True		ENSG00000111276	ENSG00000111276	HGNC:1785													
CYP24A1	gene	CYP24A1	Expert Review Green;Victorian Clinical Genetics Services	Hypercalcaemia		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Hypercalcaemia, infantile, 1, MIM# 143880;MONDO:0020739			Hypercalcemia;HP:0003072	21675912;22047572;33516786;33186763;32866123;32743688		False	3	100;0;0	1.2	True		ENSG00000019186	ENSG00000019186	HGNC:2602													
GCM2	gene	GCM2	Expert Review Green;Literature	Hypercalcaemia		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hyperparathyroidism 4, OMIM #617343			Hypercalcemia;HP:0003072	27745835		False	3	100;0;0	1.2	True	Other	ENSG00000124827	ENSG00000124827	HGNC:4198													
GNA11	gene	GNA11	Expert Review Green;Victorian Clinical Genetics Services	Hypercalcaemia		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypocalciuric hypercalcaemia, type II, MIM# 145981;MONDO:0007792			Hypercalcemia;HP:0003072	23802516;28833550;27913609		False	3	100;0;0	1.2	True		ENSG00000088256	ENSG00000088256	HGNC:4379													
MEN1	gene	MEN1	Expert list;Expert Review Green	Hypercalcaemia		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Multiple endocrine neoplasia 1 MIM#131100			Hypercalcemia;HP:0003072	31797261;14985373		False	3	100;0;0	1.2	True		ENSG00000133895	ENSG00000133895	HGNC:7010													
PTH1R	gene	PTH1R	Expert Review Green;Victorian Clinical Genetics Services	Hypercalcaemia		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400;MONDO:0007982			Hypercalcemia;HP:0003072	7701349;29788189		False	3	100;0;0	1.2	True		ENSG00000160801	ENSG00000160801	HGNC:9608													
RET	gene	RET	Expert Review;Expert Review Green	Hypercalcaemia		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Multiple endocrine neoplasia IIA, MIM#	171400;Multiple endocrine neoplasia IIB, MIM#	162300"			Hypercalcemia;HP:0003072			False	3	100;0;0	1.2	True		ENSG00000165731	ENSG00000165731	HGNC:9967													
SLC34A1	gene	SLC34A1	Expert Review Green;Victorian Clinical Genetics Services	Hypercalcaemia		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Hypercalcaemia, infantile, 2 MIM#616963			Hypercalcemia;HP:0003072	26047794;33516786;33099630;32866123;31188746;30943683		False	3	100;0;0	1.2	True		ENSG00000131183	ENSG00000131183	HGNC:11019