Genomics England

COL6A1

collagen type VI alpha 1 chain

OMIM: 120220

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 5.0	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 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes COL6A1 associated myopathy
Green in Ehlers Danlos syndrome with a likely monogenic cause 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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.37	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090