1. Genes and Genomic Entities
  2. COL12A1

COL12A1

collagen type XII alpha 1 chain
OMIM: 120320, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green COL12A1 in Congenital muscular dystrophy


Level 2: Neurology
Version 6.8
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		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 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Neurology
    Version 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    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 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    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 2: Musculoskeletal
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		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)