COL6A3

collagen type VI alpha 3 chain
OMIM: 120250, ClinGen, DECIPHER

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	1 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 1.86	2 reviews	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 0.416	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red COL6A3 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dystonia 27, MIM#616411
Green COL6A3 in Mendeliome Version 1.2302	1 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 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	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 Progressive Neurological Conditions Tremors_Superpanel	2 reviews	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 1.42 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	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	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ullrich congenital muscular dystrophy
Green COL6A3 in Fetal anomalies Version 1.313	1 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 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ullrich congenital muscular dystrophy 1, MIM#254090
Red COL6A3 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Bethlem myopathy 1 MIM#158810 Dystonia 27 MIM#616411 Ullrich congenital muscular dystrophy 1 MIM#254090