Autosomal recessive non-syndromic hearing loss, NGS
Identify autosomal recessive genetic mutations causing hearing loss; counseling and clinical management.
Genelist (80): ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16, CEP78, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYL1, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRXCR2, HARS2, HGF, ILDR1, KARS1, KCNE1, KCNQ1 , KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PJVK, PNPT1, POU3F4, PRPS1, PTPRR, RDX, RIPOR2, S1PR2, SERPINB6, SLC26A4, SLC26A5, SLITRK6, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, USH2A, WBP2, WFS1, WHRN
Featured Review
Identify autosomal recessive genetic mutations causing hearing loss; counseling and clinical management.
Genelist (80): ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16, CEP78, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYL1, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRXCR2, HARS2, HGF, ILDR1, KARS1, KCNE1, KCNQ1 , KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PJVK, PNPT1, POU3F4, PRPS1, PTPRR, RDX, RIPOR2, S1PR2, SERPINB6, SLC26A4, SLC26A5, SLITRK6, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, USH2A, WBP2, WFS1, WHRN