COL6A3

collagen type VI alpha 3 chain
OMIM: 120250, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Amber COL6A3 in Eye Anterior Segment Abnormalities Level 2: Ophthalmological disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Peters anomaly
Amber COL6A3 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 COL6A3 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
Red COL6A3 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dystonia 27, MIM#616411
Green COL6A3 in Mendeliome Version 1.1902	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 1 MIM#158810 Dystonia 27 MIM#616411 Ullrich congenital muscular dystrophy 1 MIM#254090
Green COL6A3 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	Unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green
Amber COL6A3 in Dystonia - isolated/combined Level 2: Neurology and neurodevelopmental disorders Version 1.37 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Dystonia 27, MIM#616411
Green COL6A3 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 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090
Green COL6A3 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 COL6A3 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 COL6A3 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 COL6A3 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 COL6A3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Dystonia 27 MIM#616411