COL6A3

collagen type VI alpha 3 chain
OMIM: 120250, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green COL6A3 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090 Bethlem myopathy 1 Ullrich congenital muscular dystrophy, 254090 Bethlem myopathy, 158810
Red COL6A3 in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Peters anomaly
Green COL6A3 in Congenital muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.23 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090
Green COL6A3 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090
Green COL6A3 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090
Green COL6A3 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090
Green COL6A3 in Ehlers Danlos syndrome with a likely monogenic cause Level 3: Connective tissues disorders Level 2: Rheumatological disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090
Green COL6A3 in Fetal anomalies Version 3.152 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090
Green COL6A3 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSTONIA 27 616411 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090
Red COL6A3 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.523 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090
Amber COL6A3 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Peters anomaly
Amber COL6A3 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH Phenotypes Dystonia 27, OMIM:616411
Green COL6A3 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Bethlem myopathy 1, 158810 Ullrich congenital muscular dystrophy 1, 254090 Dystonia 27, 616411