COL12A1

collagen type XII alpha 1 chain
OMIM: 120320, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green COL12A1 in Congenital muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.24 Latest signed off version: v4.23 (1 May 2024) 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 Expert Review Phenotypes Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2
Green COL12A1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ullrich congenital muscular dystrophy 2, bethlem myopathy 2
Green COL12A1 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.38 Latest signed off version: v4.37 (1 May 2024) 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 UCL Phenotypes EDS/myopathy overlap syndrome
Red COL12A1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.33 Latest signed off version: v4.32 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Ullrich congenital muscular dystrophy 2, 616470 Bethlem myopathy
Red COL12A1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693) Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353) Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339)
Green COL12A1 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 2, OMIM:616471 Bethlem myopathy 2, MONDO:0034022
Green COL12A1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bethlem myopathy 2, 616471 ?Ullrich congenital muscular dystrophy 2, 616470
Red COL12A1 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693) Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353) Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339)
Green COL12A1 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 ?Ullrich congenital muscular dystrophy 2, 616470 Bethlem myopathy 2, 616471