Panel del Síndrome de Pendred
FOXI1, KCNJ10, SLC26A4
FOXI1, KCNJ10, SLC26A4
ACTG1*, ADCY1, ATP2B2, BDP1*, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYM, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPS8, EPS8L2, ESPN*, ESRRB, EYA4, FAM65B, GIPC3,...
ABHD12, ADGRV1, ARSG, CDH23, CEP250, CEP78, CIB2, CLRN1, DFNB31, ESPN*, HARS, MYO7A, PCDH15, PDZD7#, PEX1, PEX6, PRPS1*, TUBB4B, USH1C, USH1G, USH2A
EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10
COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LRP2, VCAN
ABHD12, ACTG1*, ADGRV1, ALMS1*, ANKH, ARSG, ATP6V1B1, ATP6V1B2, BCS1L, BSND, BTD, C10ORF2, CACNA1D, CD151, CDH23, CDK9, CDKN1C, CEP250, CEP78, CHD7, CHSY1, CIB2, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, DCAF17,...
ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4
ABHD12, ABHD5, ACOX1, ACTB*, ACTG1*, ADCY1, ADGRV1, AIFM1, ALMS1*, AMMECR1, ANKH, ANLN, ARSG, ATP2B2, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCS1L, BDP1*, BSND, BTD, C10ORF2, CABP2, CACNA1D, CATSPER2*, CCDC50, CD151, CD164, CDC14A, CDC42*, CDH23, CDK9, CDKN1C, CEACAM16, CEP250,...
EYA1, SIX1, SIX5, TFAP2A
CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
