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;Expert Review Green	Familial hyperparathyroidism or hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypocalciuric hypercalcemia, type III, OMIM:600740				23222959;24081735;25162666;25993639;26082470;26963950;28176280;28740527;33729479		False	3	0;0;0	3.7	False		ENSG00000042753	ENSG00000042753	HGNC:565													
CASR	gene	CASR	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial hyperparathyroidism or hypocalciuric hypercalcaemia		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperparathyroidism, neonatal, OMIM:239200;Hypocalcemia, autosomal dominant, OMIM:601198;Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198;Hypocalciuric hypercalcemia, type I, OMIM:145980;Familial isolated hyperparathyroidism;FHH1				15292296;7916660;9253359;8675635;25162666;28740527;7874174;7916660;19423559;9011580;7717399		False	3	100;0;0	3.7	False		ENSG00000036828	ENSG00000036828	HGNC:1514													
CDC73	gene	CDC73	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial hyperparathyroidism or hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hyperparathyroidism, familial primary (145000);Hyperparathyroidism-jaw tumor syndrome (145001)				12434154;15531515;20052758;28740527		False	3	100;0;0	3.7	False		ENSG00000134371	ENSG00000134371	HGNC:16783													
CDKN1B	gene	CDKN1B	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN	Familial hyperparathyroidism or hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Multiple endocrine neoplasia, type IV, OMIM:610755				28740527;25162666		False	3	100;0;0	3.7	False		ENSG00000111276	ENSG00000111276	HGNC:1785													
GCM2	gene	GCM2	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Familial hyperparathyroidism or hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypoparathyroidism, familial isolated (146200);Hyperparathyroidism 4 (617343)				27745835;29264504;14715834;29199197;31671402		False	3	67;33;0	3.7	False		ENSG00000124827	ENSG00000124827	HGNC:4198													
GNA11	gene	GNA11	Expert Review Green;NHS GMS	Familial hyperparathyroidism or hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypocalcemia, autosomal dominant 2, OMIM:615361;Hypocalciuric hypercalcemia, type II, OMIM:145981				23222959;26729423		False	3	100;0;0	3.7	False		ENSG00000088256	ENSG00000088256	HGNC:4379													
MEN1	gene	MEN1	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN	Familial hyperparathyroidism or hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Multiple endocrine neoplasia 1 (131100);Familial isolated hyperparathyroidism				28740527;25162666		False	3	100;0;0	3.7	False		ENSG00000133895	ENSG00000133895	HGNC:7010													
RET	gene	RET	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN	Familial hyperparathyroidism or hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple endocrine neoplasia IIB (162300);Multiple endocrine neoplasia IIA (171400)/MEN3				28740527;25162666		False	3	100;0;0	3.7	False	Other	ENSG00000165731	ENSG00000165731	HGNC:9967