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Table 2 Genes mutated in CMS

From: Congenital myasthenic syndromes

Gene Chromosome MOI LD OOCM PCMS (%)a
AGRN 1p36.33 AR post con, inf < 1
ALG2 9q22.33 AR glyc con, inf < 1
ALG14 1p21.3 AR glyc con, child < 1
CHAT 10q11.23 AR pre con, inf 4–5
CHRNA1 2q31.1 AD/AR post con, adult < 1
CHRNB1 17p13.1 AF/AR post inf < 1
CHRND 2q37.1 AD/AR post inf < 1
CHRNE 17p13.2 AD/AR post con, inf, child, adult 50
CHRNG 2q37.1 AR post con uk
COL13A1 10q22.1 AR post con < 1
COLQ 3p24.2 AR syn con, inf, child 10–15
DOK7 4p16.3 AR post con, inf, child, adol, adult 10–15
DPAGT1 11q23.3 AR glyc inf, adol < 1
GFPT1 2p13.3 AR glyc con, inf, child, adult 2
GMPPB 3p21.31 AR glyc con < 1
LAMA5 20q13.33 uk pre con < 1
LAMB2 3p21.31 AR syn con < 1
LRP4 11p11.2 AR post con < 1
MUNC13–1 19 AR pre inf < 1
MUSK 9q31.3 AR post con < 1
MYO9A 15q23 AR post con < 1
PLEC 8q24.3 AR post con < 1
PREP1 2p21 AR post con < 1
RAPSN 11p13-q1 AR post con, inf, child, adol, adult 10–20
SCN4A 17q23.3 AR post inf < 1
SLC18A3 10q11.23 AR pre con, inf < 1
SLC25A1 22q11.21 AR post inf < 1
SLC5A7 2q12.3 AD pre con, inf < 1
SNAP25 20p12.2 AD pre con < 1
SYB1 12p uk pre inf < 1
SYT2 1q32.1 AD pre child < 1
VAMP1 12p13.21 AR pre con < 1
  1. MOI mode of inheritance, LD localisation of defect, pre: presynaptic, syn: synaptic, post: post-synaptic, glyc: glycosylation defect, OOCM onset of clinical manifestations, con congenital, inf infantile, child childhood, adol adolescence, adult: adulthood PCMS prevalence of various subtypes, a: according to [6], uk unknown