Genomics England

COL6A2

collagen type VI alpha 2 chain

OMIM: 120240

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Ullrich congenital muscular dystrophy 1 254090, Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090Myosclerosis, congenital, 255600
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 4.29	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.42	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 4.15	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
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 4.195	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Ullrich congenital muscular dystrophy 1 254090, Bethlem myopathy 1 158810
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 158810