MYBPC1

myosin binding protein C, slow type
OMIM: 160794
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 6.3
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
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 1B, OMIM:614335, Lethal congenital contracture syndrome 4, OMIM:614915, Myopathy, congenital, with tremor, OMIM:618524
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915, MYBPC1-related arthrogryposis and myopathy
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 4 614915, Arthrogryposis, distal, type 1B 614335