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Hearing loss

Gene: TSHR

Red List (low evidence)

TSHR (thyroid stimulating hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000165409
EnsemblGeneIds (GRCh37): ENSG00000165409
OMIM: 603372, Gene2Phenotype
TSHR is in 6 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Inheritance:Autosomal dominant;Autosomal recessive;Isolated cases
Created: 9 Feb 2016, 10:08 a.m.

Mode of inheritance
Other

Phenotypes
#275200:Hypothyroidism, congenital, nongoitrous, 1[EuthyroidismNormal sized thyroid glandNo goiterHypothyroidism in subset of patientsPatients with hypothyroidism have hypoplastic thyroid gland; Absence of anti-thyroid antibodies; Increased serum thyroid-stimulating hormone (TSH)Normal or mildly decreased serum levels of free thyroid hormones]; #603373:Hyperthyroidism, familial gestational[<omim version=1.0><clinicalSynopsisList>]; #609152:Hyperthyroidism, nonautoimmune[Low birth weight; Absence of exophthalmos; Tachycardia; Advanced bone age; Absence of dermopathyAbsence of pretibial myxedema; Delayed motor developmentDelayed speech developmentMental retardationSleep difficulties; Hyperactivity; HyperthyroidismGoiterThyroid hyperplasiaAbsence of immune complexes and lymphocytes in thyroid tissue; Absence of anti-thyroid antibodies; Premature delivery of affected infants; Decreased serum thyroid-stimulating hormone (TSH)Increased serum levels of free plasma thyroid hormones]; #:Thyroid carcinoma with thyrotoxicosis

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSHR was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert