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| Monogenic hearing loss v2.3 | TMEM132E | Eleanor Williams Tag watchlist tag was added to gene: TMEM132E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.3 | TMEM132E | Eleanor Williams edited their review of gene: TMEM132E: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.3 | TMEM132E |
Eleanor Williams gene: TMEM132E was added gene: TMEM132E was added to Hearing loss. Sources: Literature Mode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM132E were set to 25331638; 31656313 Phenotypes for gene: TMEM132E were set to Nonsyndromic Hearing Loss Review for gene: TMEM132E was set to RED Added comment: Two publications support the addition of this gene to the panel: PMID: 25331638 - Li et al 2015 - report two siblings with prelingual, bilateral, severe to profound sensorineural hearing loss in a consanguineous Chinese family. Whole‐exome sequencing revealed a homozygous missense mutation c.1259G>A (rs139895222), p.Arg420Gln, in TMEM132E that cosegregates with deafness in the family. The parents and a brother were heterozygous. The 1259A allele was not found in 500 ethnically matched controls. Immunofluorescence staining of the Organ of Corti showed Tmem132e highly expressed in murine inner hair cells and knockdown of the tmem132e ortholog in zebrafish affected the mechanotransduction of hair cells. Wild‐type human TMEM132E mRNA, but not the mRNA carrying the c.1259G>A mutation rescued the Tmem132e knockdown phenotype. PMID: 31656313 - Liaqat et al 2019 - a family of Pakistani origin with prelingual profound sensorineural hearing impairment displaying AR mode of inheritance was investigated via exome and Sanger sequencing. Compound heterozygous variants c.382G>T: p.(Ala128Ser) and c.2204C>T: p.(Pro735Leu) in TMEM132E were observed in affected but not in unaffected family members. Sources: Literature |
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