MYBPC1

myosin binding protein C, slow type
OMIM: 160794
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 1B, 614335, Lethal congenital contracture syndrome 4, 614915, Distal Arthrogryposis
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 1B, 614335, Lethal congenital contracture syndrome 4, 614915
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 4 614915, Arthrogryposis, distal, type 1B 614335