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
AIRE	gene	AIRE	Expert Review Green;NHS GMS	Familial hypoparathyroidism	Disorders of calcium homeostasis	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Autoimmune polyendocrine syndrome type 1 MONDO:0009411			Hypoparathyroidism;HP:0000829			False	3	100;0;0	1.3	True		ENSG00000160224	ENSG00000160224	HGNC:360													
CASR	gene	CASR	Expert Review Green;NHS GMS	Familial hypoparathyroidism	Disorders of calcium homeostasis	Endocrine disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	autosomal dominant hypocalcemia 1 MONDO:0011013			Hypoparathyroidism;HP:0000829	7916660;7726161;8675635;17698911;22620673;26646938;22422767		False	3	100;0;0	1.3	True		ENSG00000036828	ENSG00000036828	HGNC:1514													
GATA3	gene	GATA3	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Familial hypoparathyroidism	Disorders of calcium homeostasis	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypoparathyroidism-deafness-renal disease syndrome MONDO:0007797			Hypoparathyroidism;HP:0000829	10935639;11389161;21120445;26316437;25771973;27387476;30396722		False	3	100;0;0	1.3	True		ENSG00000107485	ENSG00000107485	HGNC:4172													
GCM2	gene	GCM2	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Familial hypoparathyroidism	Disorders of calcium homeostasis	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial isolated hyperparathyroidism MONDO:0015027			Hypoparathyroidism;HP:0000829	27745835		False	3	100;0;0	1.3	True	Other	ENSG00000124827	ENSG00000124827	HGNC:4198													
GNA11	gene	GNA11	Expert Review Green;NHS GMS	Familial hypoparathyroidism	Disorders of calcium homeostasis	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	autosomal dominant hypocalcemia MONDO:0018543			Hypoparathyroidism;HP:0000829	23802536;23802516;24823460;26818911;27334330		False	3	100;0;0	1.3	True	Other	ENSG00000088256	ENSG00000088256	HGNC:4379													
PTH	gene	PTH	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Familial hypoparathyroidism	Disorders of calcium homeostasis	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016000			Hypoparathyroidism;HP:0000829	2212001;1302009;10523031;35165722;32421798		False	3	100;0;0	1.3	True		ENSG00000152266	ENSG00000152266	HGNC:9606													
TBCE	gene	TBCE	Expert Review Green;NHS GMS	Familial hypoparathyroidism	Disorders of calcium homeostasis	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009426			Hypoparathyroidism;HP:0000829	27666369		False	3	100;0;0	1.3	True		ENSG00000116957	ENSG00000116957	HGNC:11582