COL12A1

collagen type XII alpha 1 chain
OMIM: 120320, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green COL12A1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopathic EDS Bethlem myopathy 2 MIM#616471 Ullrich congenital muscular dystrophy 2 MIM#616470
Green COL12A1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL12A1 in Mendeliome Version 1.2302	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathic EDS Bethlem myopathy 2 MIM#616471 Ullrich congenital muscular dystrophy 2 MIM#616470
Green COL12A1 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	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ullrich congenital muscular dystrophy 2 , MIM# 616470
Red COL12A1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	review	Not set	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339) Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353) {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)
Green COL12A1 in Fetal anomalies Version 1.313	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ullrich congenital muscular dystrophy 2, 616470 Bethlem myopathy 2, 616471