Ichthyosis and related disorders of cornification, NGS
Diagnosis of ichthyosis and disorders of cornification; genetic counseling and clinical care.
Genelist (89): AAGAB, ABCA12, ABHD5, ALDH3A2, ALMS1, ALOX12B, ALOXE3, AP1S1, AQP5, ARSL, ATP2A2, ATP2C1, CARD14, CASP14, CAST, CDSN, CERS3, CHKB, CLDN1, CSTA, CTSC, CYP4F22, DSG1, DSP, EBP, ELOVL1, ELOVL4, ENPP1, ERCC2, ERCC3, FLG, GBA1, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2E2, GTF2H5, JUP, KDSR, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT6C, KRT9, LIPN, LORICRIN, MBTPS2, MPLKIP, NIPAL4, NSDHL, OSMR, PEX7, PHYH, PIGA, PIGL, PNPLA1, POMP, PSAT1, RHBDF2, RIN2, SDR9C7, SERPINB7, SERPINB8, SHOC2, SLC27A4, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SULT2B1, SUMF1, TAT, TGM1, TGM5, TRPV3, VIPAS39, VPS33B, WNT10A, ZMPSTE24
Featured Review
Diagnosis of ichthyosis and disorders of cornification; genetic counseling and clinical care.
Genelist (89): AAGAB, ABCA12, ABHD5, ALDH3A2, ALMS1, ALOX12B, ALOXE3, AP1S1, AQP5, ARSL, ATP2A2, ATP2C1, CARD14, CASP14, CAST, CDSN, CERS3, CHKB, CLDN1, CSTA, CTSC, CYP4F22, DSG1, DSP, EBP, ELOVL1, ELOVL4, ENPP1, ERCC2, ERCC3, FLG, GBA1, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2E2, GTF2H5, JUP, KDSR, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT6C, KRT9, LIPN, LORICRIN, MBTPS2, MPLKIP, NIPAL4, NSDHL, OSMR, PEX7, PHYH, PIGA, PIGL, PNPLA1, POMP, PSAT1, RHBDF2, RIN2, SDR9C7, SERPINB7, SERPINB8, SHOC2, SLC27A4, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SULT2B1, SUMF1, TAT, TGM1, TGM5, TRPV3, VIPAS39, VPS33B, WNT10A, ZMPSTE24