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 Review Green;Genomics England PanelApp	Hyperthyroidism		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Familial dysalbuminaemic hyperthyroxinaemia;[Dysalbuminemic hyperthyroxinemia], 615999			Hyperthyroidism HP:0000836	29163366;24646103;8064810;27834068;32635414		False	3	100;0;0	0.23	True	Other	ENSG00000163631	ENSG00000163631	HGNC:399													
SECISBP2	gene	SECISBP2	Expert Review Green;Genomics England PanelApp	Hyperthyroidism		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	"Thyroid hormone metabolism, abnormal, MIM#	609698"			Hyperthyroidism HP:0000836	22986150;24629861;19602558;22247018;20501692;16228000;21084748		False	3	100;0;0	0.23	True		ENSG00000187742	ENSG00000187742	HGNC:30972													
SLC16A2	gene	SLC16A2	Expert Review Green;Genomics England PanelApp	Hyperthyroidism		Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Allan-Herndon-Dudley syndrome, MIM#	300523"			Hyperthyroidism HP:0000836	24847459;25517855;21098685;31410843		False	3	100;0;0	0.23	True		ENSG00000147100	ENSG00000147100	HGNC:10923													
THRA	gene	THRA	Expert Review Green;Genomics England PanelApp	Hyperthyroidism		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Hypothyroidism, congenital, nongoitrous, 6	614450"			Hyperthyroidism HP:0000836	24847459;27144938;22168587;23940126;2567082;22494134;27381958		False	3	100;0;0	0.23	True	Other	ENSG00000126351	ENSG00000126351	HGNC:11796													
THRB	gene	THRB	Expert Review Green;Genomics England PanelApp	Hyperthyroidism		Endocrine disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	"Thyroid hormone resistance, MIM#	188570;Thyroid hormone resistance, autosomal recessive, MIM#	274300;Thyroid hormone resistance, selective pituitary, MIM#	145650"			Hyperthyroidism HP:0000836	24847459;25135573;31590893		False	3	100;0;0	0.23	True	Other	ENSG00000151090	ENSG00000151090	HGNC:11799													
TSHR	gene	TSHR	Expert Review Green;Genomics England PanelApp	Hyperthyroidism		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperthyroidism, nonautoimmune, MIM# 609152			Hyperthyroidism HP:0000836	7920658;7800007;8964822		False	3	100;0;0	0.23	True		ENSG00000165409	ENSG00000165409	HGNC:12373													
TTR	gene	TTR	Expert Review Green;Genomics England PanelApp	Hyperthyroidism		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	DTTRH;[Dystransthyretinemic hyperthyroxinemia], 145680			Hyperthyroidism HP:0000836	31590893;26522458;8784093		False	3	100;0;0	0.23	True	Other	ENSG00000118271	ENSG00000118271	HGNC:12405													
TRU-TCA1-1	gene	TRU-TCA1-1	Expert Review Amber;Literature	Hyperthyroidism		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Inherited thyroid metabolism disease, MONDO:0045046, TRU-TCA1-1 related			Hyperthyroidism HP:0000836	26854926;34956927		False	2	0;100;0	0.23	True		-	-	HGNC:12348													
