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 list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Familial hypoparathyroidism		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300;autoimmune polyendocrine syndrome type 1, MONDO:0009411				11600535;19393987;27253668;29129473;31905445;35521792;37993717;37235056		False	3	100;0;0	3.5	True		ENSG00000160224	ENSG00000160224	HGNC:360													
CASR	gene	CASR	Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN	Familial hypoparathyroidism		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperparathyroidism, neonatal, 239200;Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198						False	3	100;0;0	3.5	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000036828	ENSG00000036828	HGNC:1514													
GATA3	gene	GATA3	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial hypoparathyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255						False	3	100;0;0	3.5	True		ENSG00000107485	ENSG00000107485	HGNC:4172													
GCM2	gene	GCM2	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial hypoparathyroidism		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypoparathyroidism, familial isolated, 146200				18712808;22066718;20463099;20190276		False	3	100;0;0	3.5	True		ENSG00000124827	ENSG00000124827	HGNC:4198													
GNA11	gene	GNA11	Expert list;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial hypoparathyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypocalcemia, autosomal dominant 2, 615361;hypercalcemia, type II, 145981				23802516;24823460;23782177		False	3	100;0;0	3.5	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000088256	ENSG00000088256	HGNC:4379													
PTH	gene	PTH	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial hypoparathyroidism		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypoparathyroidism, autosomal dominant, 146200;Hypoparathyroidism, autosomal recessive, 146200						False	3	100;0;0	3.5	True		ENSG00000152266	ENSG00000152266	HGNC:9606													
TBCE	gene	TBCE	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Familial hypoparathyroidism		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Caffey syndrome, type 1, 244460				12389028; 16938882		False	3	50;50;0	3.5	True		ENSG00000116957	ENSG00000116957	HGNC:11582													
TBX1	gene	TBX1	Expert Review Green;NHS GMS;Other	Familial hypoparathyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	DiGeorge syndrome, OMIM:188400;Conotruncal anomaly face syndrome, OMIM:217095;Velocardiofacial syndrome, OMIM:192430				14585638;17273972;30137364		False	3	67;0;33	3.5	False		ENSG00000184058	ENSG00000184058	HGNC:11592													
STX16	gene	STX16	Expert Review Amber;Literature;NHS GMS	Familial hypoparathyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pseudohypoparathyroidism, type IB OMIM:603233;pseudohypoparathyroidism type 1B:MONDO:0011301				14561710;15579741;15800843;33320452;32337648;35119251		False	2	33;67;0	3.5	False		ENSG00000124222	ENSG00000124222	HGNC:11431													
SOX3	gene	SOX3	Expert list;Expert Review Red	Familial hypoparathyroidism		Endocrinology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123;Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252;Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712				6167084		False	1	0;0;0	3.5	True		ENSG00000134595	ENSG00000134595	HGNC:11199