Hereditary hearing loss and deafness
- Synonyms
- Hereditary hearing disorder; Hereditary hearing loss
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (19 available)
Genes See tests for all associated and related genes
Also known as: COI, MTCO1, COX1
Summary: mitochondrially encoded cytochrome c oxidase IAlso known as: BRAIN-4, BRN-4, BRN4, DFN3, DFNX2, OCT-9, OTF-9, OTF9, POU3F4
Summary: POU class 3 homeobox 4Also known as: ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI, PRPS1
Summary: phosphoribosyl pyrophosphate synthetase 1Also known as: MTRNR1, RNR1
Summary: mitochondrially encoded 12S RNAAlso known as: Chisel, Csl, DFN6, DFNX4, MPD7, SMPX
Summary: small muscle protein X-linkedAlso known as: MTTS1, TRNS1
Summary: mitochondrially encoded tRNA serine 1 (UCN)
- NICE, 2023UK NICE Guideline (NG98), Hearing loss in adults: assessment and management, 2023
- NICE, 2019Cochlear implants for children and adults with severe to profound deafness (2019 Update)
- ACMG ACT Sheet, 2018Newborn Screening ACT Sheet (Congenital Hearing Loss >30db)
- ACMG ACT Sheet, 2010American College of Medical Genetics ACT SHEET, Congenital Hearing Loss, 2010
- ACMG Algorithm, 2009American College of Medical Genetics Algorithm, Hearing Loss, 2009
- NICE, 2009National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009 [See 2019 Update, TA566]
- ACMG Algorithm, 2009American College of Medical Genetics ACT SHEET, Newborn Screening ACT Sheet Algorithm, Congenital Hearing Loss, 2009
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