TRAPPC11

trafficking protein particle complex 11
OMIM: 614138
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract, infantile-onset muscle weakness, Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2S, 615356