COL12A1

collagen type XII alpha 1 chain
OMIM: 120320
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ullrich congenital muscular dystrophy 2, bethlem myopathy 2
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
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
EDS/myopathy overlap syndrome
R-numbers: R101
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathic EDS, mEDS, EDS/Myopathy overlap syndrome, Ehlers-Danlos syndrome, Myopathic type