COL6A2

collagen type VI alpha 2 chain
OMIM: 120240
PanelMode of inheritanceDetails
6 panels
R-numbers: R83
Signed-off version 6.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ullrich congenital muscular dystrophy 1 254090, Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090Myosclerosis, congenital, 255600
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
Bethlem myopathy, OMIM:158810, Ullrich congenital muscular dystrophy, OMIM:254090
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090, COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090
R-numbers: R101
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy 1,OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ullrich congenital muscular dystrophy 1 254090, Bethlem myopathy 1 158810
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy 1 158810