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
ALB	gene	ALB	Expert list;Expert Review Green	Hyperthyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Familial dysalbuminaemic hyperthyroxinaemia;[Dysalbuminemic hyperthyroxinemia], OMIM:615999;?[Dysalbuminemic hypertriiodothyroninemia], OMIM:615999				29163366;8064810;24646103;27834068;29676214		False	3	100;0;0	3.5	False		ENSG00000163631	ENSG00000163631	HGNC:399													
SECISBP2	gene	SECISBP2	Eligibility statement prior genetic testing;Expert list;Expert Review Green;Literature;Other;Radboud University Medical Center, Nijmegen	Hyperthyroidism		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Abnormal thyroid hormone metabolism;Selenocysteine insertion sequence binding protein 2 (SBP2) defect ;Thyroid hormone metabolism, abnormal, 609698;THYROID HORMONE METABOLISM, ABNORMAL;Short stature-delayed bone age due to thyroid hormone metabolism deficiency				24629861;22986150;22247018;21084748;20501692;19602558;16228000;Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23		False	3	100;0;0	3.5	False		ENSG00000187742	ENSG00000187742	HGNC:30972													
SLC16A2	gene	SLC16A2	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN	Hyperthyroidism		Endocrinology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Allan-Herndon-Dudley syndrome, OMIM:300523				24847459		False	3	100;0;0	3.5	False		ENSG00000147100	ENSG00000147100	HGNC:10923													
THRA	gene	THRA	Eligibility statement prior genetic testing;Expert list;Expert Review Green;Literature;Other;Radboud University Medical Center, Nijmegen	Hyperthyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	RTH alpha; congenital nongoitrous hypothyroidism 6;Resistance to thyroid hormone alpha;  Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa);Hypothyroidism, congenital, nongoitrous, 6, 614450;HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6				24847459;27381958;22168587;22494134;23940126;2567082;27144938		False	3	100;0;0	3.5	False		ENSG00000126351	ENSG00000126351	HGNC:11796													
THRB	gene	THRB	Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN	Hyperthyroidism		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Resistance to thyroid hormone (RTH); thyroid hormone unresponsiveness, generalized RTH, RTH beta; Refetoff syndrome;Thyroid Hormone Resistance, Selective Pituitary; PRTH; 145650;Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300;  Thyroid hormone resistance, selective pituitary, 145650;Thyroid Hormone Resistance (monoallelic);THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; THYROID HORMONE UNRESPONSIVENESS; REFETOFF SYNDROME; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION				24847459		False	3	100;0;0	3.5	False		ENSG00000151090	ENSG00000151090	HGNC:11799													
TSHR	gene	TSHR	Expert list;Expert Review Green	Hyperthyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital, nonautoimmune hyperthyroidism;Hyperthyroidism, nonautoimmune, 609152						False	3	100;0;0	3.5	False		ENSG00000165409	ENSG00000165409	HGNC:12373													
TTR	gene	TTR	Expert Review Green;Literature	Hyperthyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	[Dystransthyretinemic hyperthyroxinemia], 145680;DTTRH				31590893;26522458		False	3	100;0;0	3.5	False	Other	ENSG00000118271	ENSG00000118271	HGNC:12405													
TRU-TCA1-1	gene	TRU-TCA1-1	Eligibility statement prior genetic testing;Expert list;Expert Review Red	Hyperthyroidism		Endocrinology	Unknown							False	1	0;0;100	3.5	False		-	-	HGNC:12348