TSHR

thyroid stimulating hormone receptor
OMIM: 603372, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TSHR in Hyperthyroidism Level 2: Endocrinology Version 3.5 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Congenital, nonautoimmune hyperthyroidism Hyperthyroidism, nonautoimmune, 609152
Red TSHR in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Hyperthyroidism, nonautoimmune, OMIM:609152 Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200
Green TSHR in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200
Red TSHR in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Red TSHR in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypothyroidism, congenital, nongoitrous, 1 275200 Thyroid adenoma, hyperfunctioning, somatic Hyperthyroidism, nonautoimmune, 609152 Thyroid carcinoma with thyrotoxicosis Hyperthyroidism, familial gestational, 603373
Green TSHR in Congenital hypothyroidism Level 2: Endocrinology Version 3.3 Latest signed off version: v3.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital hypothyroidism Hypothyroidism, Congenital, Nongoitrous, 1, 275200 Hypothyroidism, congenital, nongoitrous, 1 275200 TSH resistance thyroid hypoplasia subclinical hypothyroidism thyroid dysgenesis eutopic gland-in-situ compensated hypothryoidism