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Hearing loss

Gene: LHX3

Red List (low evidence)

LHX3 (LIM homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000107187
EnsemblGeneIds (GRCh37): ENSG00000107187
OMIM: 600577, Gene2Phenotype
LHX3 is in 11 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#221750:Pituitary hormone deficiency, combined, 3[Short stature (if untreated); Deafness, sensorineural, variable; Short neck with limited rotation; Mental retardation (if untreated); Anterior pituitary hypoplasiaAnterior pituitary enlargement; Low or absent growth hormone (GH)Low or absent thyroid-stimulating hormone (TSH)Low or absent follicle-stimulating hormone (FSH)Low or absent luteinizing hormone (LH)Low or absent prolactin (PL)Low or absent adrenocorticotropic hormone (ACTH) in some patients; Caused by mutations in the LIM/homeodomain protein LHX3 gene (LHX3,)]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LHX3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert