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
CASR	gene	CASR	Expert Review Green;Genomics England PanelApp	Hyperparathyroidism	Calcium disorders	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Neonatal severe primary hyperparathyroidism, MONDO:0009397			Hyperparathyroidism;HP:0000843	8675635,15292296,9253359,8675635,25162666,28740527		False	3	100;0;0	0.12	True		ENSG00000036828	ENSG00000036828	HGNC:1514													
CDC73	gene	CDC73	Expert Review Green;Victorian Clinical Genetics Services	Hyperparathyroidism	Calcium disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperparathyroidism-jaw tumour syndrome, MIM# 145001;Hyperparathyroidism, familial primary, MIM# 145000			Hyperparathyroidism;HP:0000843	12434154		False	3	100;0;0	0.12	True		ENSG00000134371	ENSG00000134371	HGNC:16783													
CDKN1B	gene	CDKN1B	Expert Review Green;Victorian Clinical Genetics Services	Hyperparathyroidism	Calcium disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple endocrine neoplasia type 4, MEN4, OMIM #610755			Hyperparathyroidism;HP:0000843	24819502;17030811;23555276		False	3	100;0;0	0.12	True		ENSG00000111276	ENSG00000111276	HGNC:1785													
GCM2	gene	GCM2	Expert Review Green;Literature	Hyperparathyroidism	Calcium disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hyperparathyroidism 4, OMIM #617343			Hyperparathyroidism;HP:0000843	27745835		False	3	100;0;0	0.12	True	Other	ENSG00000124827	ENSG00000124827	HGNC:4198													
MEN1	gene	MEN1	Expert list;Expert Review Green	Hyperparathyroidism	Calcium disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple endocrine neoplasia 1 MIM#131100			Hyperparathyroidism;HP:0000843	PMID: 31797261, 14985373		False	3	100;0;0	0.12	True		ENSG00000133895	ENSG00000133895	HGNC:7010													
RET	gene	RET	Expert list;Expert Review;Expert Review Green	Hyperparathyroidism	Calcium disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple endocrine neoplasia IIA, MIM# 171400;Multiple endocrine neoplasia IIB, MIM# 162300			Hyperparathyroidism;HP:0000843			False	3	100;0;0	0.12	True		ENSG00000165731	ENSG00000165731	HGNC:9967