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ClinGen Hearing Loss Knowledge Base

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As a ClinGen Clinical Domain Working Group (CDWG), the Hearing Loss CDWG aims to create a comprehensive, standardized knowledge base of genes and variants relevant to syndromic and nonsyndromic HL. Members were identified and recruited based on their expertise in hearing loss, and are representative of diverse institutions worldwide, spanning Asia, Australia, Europe, and North America. Members include otolaryngologists, clinical geneticists, molecular geneticists, ClinGen biocurators, clinical researchers, and genetic counselors from over 15 institutions. The Hearing Loss CDWG has so far formed two major efforts defined by ClinGen as a Gene Curation Expert Panel, and a Variant Curation Expert Panel (HL-EP).

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Oza A.M., DiStefano M.T., Hemphill S.E., Cushman B.J., Grant A.R., Siegert R.K., Shen J., Chapin A., Boczek N.J., Schimmenti L.A., Murry J.B., Hasadsri L., Nara K., Kenna M., Booth K.T., Azaiez H., Griffith A., Avraham K.B., Kremer H., Rehm H.L., Amr S.S, & Tayoun A.N. (2018). Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss. Human mutation, 39(11), 1593-1613.

Publication 2018

A genes Clinical researchers Counselors Gene Hearing loss Institutions Otolaryngologists Syndromic

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