COL6A1

collagen type VI alpha 1 chain
OMIM: 120220
PanelMode of inheritanceDetails
7 panels
R-numbers: R83
Signed-off version 4.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
COL6A1 associated myopathy
R-numbers: R101
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy 1,158810, Ullrich congenital muscular dystrophy 1,254090, Myopathic EDS
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090