PanelApp
  1. Genes and Genomic Entities
  2. COL12A1

COL12A1

collagen type XII alpha 1 chain
OMIM: 120320, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green COL12A1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.100

2 reviews 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 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green COL12A1 in Mendeliome


    Version 1.3512

    		2 reviews 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 1.108

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  4 reviews 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 0.346

    		1 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 1.465

    		1 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