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 Thyroid disorders Endocrine disorders 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 3.4 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 Thyroid disorders Endocrine disorders 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 3.4 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 Thyroid disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, OMIM:300523 24847459 False 3 100;0;0 3.4 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 Thyroid disorders Endocrine disorders 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 3.4 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 Thyroid disorders Endocrine disorders 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 3.4 False ENSG00000151090 ENSG00000151090 HGNC:11799 TSHR gene TSHR Expert list;Expert Review Green Hyperthyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital, nonautoimmune hyperthyroidism;Hyperthyroidism, nonautoimmune, 609152 False 3 100;0;0 3.4 False ENSG00000165409 ENSG00000165409 HGNC:12373 TTR gene TTR Expert Review Green;Literature Hyperthyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown [Dystransthyretinemic hyperthyroxinemia], 145680;DTTRH 31590893;26522458 False 3 100;0;0 3.4 False Other ENSG00000118271 ENSG00000118271 HGNC:12405