TSHR

thyroid stimulating hormone receptor
OMIM: 603372, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red TSHR in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hyperthyroidism, nonautoimmune, MIM#609152
Green TSHR in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.72	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperthyroidism, nonautoimmune - MIM#609152 Hyperthyroidism, familial gestational - MIM#603373 Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Green TSHR in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperthyroidism, familial gestational, MIM # 603373, MONDO:0011309 Hyperthyroidism, nonautoimmune, MIM# 609152 Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200, MONDO:0000045
Red TSHR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200
Green TSHR in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism
Green TSHR in Hyperthyroidism Level 2: Endocrine disorders Version 0.24	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hyperthyroidism, nonautoimmune, MIM# 609152
Green TSHR in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.53	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 1 275200 thyroid dysgenesis Congenital hypothyroidism thyroid hypoplasia compensated hypothryoidism subclinical hypothyroidism Hypothyroidism, Congenital, Nongoitrous, 1, 275200 eutopic gland-in-situ TSH resistance
Green TSHR in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperthyroidism, nonautoimmune - MIM#609152 Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Green TSHR in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 Tags treatable endocrine