TRPV4

Hereditäre motorisch sensible Neuropathie (HMSN), erweiterte Diagnostik

AARS, ARHGEF10, DYNC1H1, HOXD10, IGHMBP2, LRSAM1, PRX, TRPV4

Hereditäre motorisch sensible Neuropathie, distal (dHMN)

BSCL2, DCTN1, DNAJB2, GARS, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, TRPV4

Spinale Muskelatrophie – infantil

ASAH1, ASCC1, ATP7A, BICD2, DYNC1H1, EXOSC3, EXOSC8, IGHMBP2, PLEKHG5, SIGMAR1, SMN1, TRPV4, UBA1, VRK1

Spinale Muskelatrophie – adult

AARS, AR, ATP7A, BSCL2, DCTN1, DNAJB2, GARS1, HSPB1, HSPB3, HSPB8, REEP1, SETX, SLC5A7, SMN1, TRPV4, VAPB