Genomics England
GMS Panels
Panels
Genes and Entities

MYBPC1

myosin binding protein C, slow type
OMIM: 160794
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
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
Green
in Congenital muscular dystrophy and congenital myopathy
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
Green
in Fetal anomalies
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