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Table 3 New diagnoses in this cohort

From: Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

Patient ID Gene Reference Allele 1* Allele 2 Inheritance Time to diagnosis Family history Date of report Reason to upgrade Reference; Published date
1 MYO15A NM_016239.3 c.10245_10247delCTC; p.Ser3417del c.9314_9315insC; p.His3106Profs*2 AR 3 y No September 2016 New publication PMID29482514; February 2018
2 MYO15A NM_016239.3 c.10245_10247delCTC; p.Ser3417del c.10245_10247delCTC; p.Ser3417del AR 27 y YES March 2017 New publication PMID29482514; February 2018
3 MYO7A NM_000260.3 c.3671C > A; p. Ala1224Asp c.397dupC; p. His133Profs*7 AR 4 y YES July 2015 New publication PMID26968074; April 2016
4 MITF NM_198159.2 c.1021C > G; p.Arg341Gly N/A AD 29 y No August 2016 New publication PMID29484430; January 2018 and PMID30394532; November 2018
5 MITF NM_198159.2 c.1021C > T; p.Arg341Cys N/A AD 5 y No December 2014 New publication PMID27057829; April 2016
6 TMC1 NM_138691.2 c.1250G > A; p. Gly417Glu c.1250G > A; p.Gly417Glu AR 48 y YES November 2015 ACMG/AMP Guidelines (PM5) PMID25741868; May 2015
7 CDH23 NM_022124.5 c.1037C > G; p. Pro346Arg c.489delA; p. Gly165Alafs*25 AR 21 y YES July 2015 ACMG/AMP Guidelines (PM5) PMID25741868; May 2015
8 PAX3 NM_001127366.2 c.870_871insC; p. Gly292Argfs*118 N/A AD 26 y No January 2017 Expanded analysis N/A
9 TMC1 NM_138691.2 EX6_EX10, DEL c.1333C > T AR 8 y No December 2014 Expanded analysis N/A
  1. *Variants of allele 1 were those upgraded from variants of uncertain significance to likely pathogenic. PM5 denotes a pathogenic moderate criterion from the variant interpretation guidelines recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. AR autosomal recessive. AD autosomal dominant. N/A Not applicable