Table 2

Previously reported and novel disease phenotypes

GenePreviously reported phenotypePhenotype in this manuscript
SIGMAR1 ALS/HMNHMN
ARHGEF28 ALSCMT2/HMN
VRK1 ALS/SMA with PCHHMN
PNKP Ataxia-CMT2/AOACMT2
KBTBD13 Myopathy (NEM)HMN
GNE Myopathy (hIBM)hIBM/HMN?
AGRN Congenital myasteniaCMT2
  • ALS, amyotrophic lateral sclerosis; AOA, ataxia oculomotor apraxia; CMT2, Charcot-Marie-Tooth neuropathy type 2; hIBM, hereditary inclusion body myopathy;HMN, distal hereditary motor neuropathy; NEM, nemaline myopathy; PCH, pontocerebellar hypoplasia; SMA, spinal muscular atrophy.