COL6A1

collagen type VI alpha 1 chain
OMIM: 120220, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber COL6A1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Bethlem myopathy 1 MIM #158810 Ullrich congenital muscular dystrophy 1 MIM #254090
Green COL6A1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL6A1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090
Green COL6A1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090
Green COL6A1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090
Green COL6A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ullrich congenital muscular dystrophy 1, 254090 (3)
Green COL6A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ullrich congenital muscular dystrophy
Green COL6A1 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bethlem myopathy 1, MIM# 158810 Ullrich congenital muscular dystrophy 1, MIM# 254090
Green COL6A1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ullrich congenital muscular dystrophy 1, 254090 (3)
Red COL6A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090
Green COL6A1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ullrich congenital muscular dystrophy 1, 254090 (3)