COL11A1

collagen type XI alpha 1 chain
OMIM: 120280, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Red COL11A1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Red COL11A1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.41

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green COL11A1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.94
Latest signed off version: v2.76 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Marshall Syndrome, OMIM:154780
  • Stickler syndrome, type II, OMIM:604841

Green COL11A1 in Stickler syndrome

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.23
Latest signed off version: v2.2 (19 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type II, OMIM:604841
  • Marshall syndrome, OMIM:154780

Red COL11A1 in Thoracic aortic aneurysm and dissection


Version 1.18
Latest signed off version: v1.2 (19 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH

Red COL11A1 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.123

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list

Green COL11A1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.168
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Stickler syndrome, type II, OMIM:604841
    • Marshall syndrome, OMIM:154780
    • Fibrochondrogenesis 1, OMIM:228520

    No list COL11A1 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.64
    Latest signed off version: v2.3 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • NHS GMS
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Stickler syndrome, type II, 604841
    • Connective Tissue Disorders
    • Marshall syndrome, 154780
    • Fibrochondrogenesis, 228520
    Tags
    • curated_removed

    Green COL11A1 in Fetal anomalies


    Version 1.826
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FIBROCHONDROGENESIS
    • STICKLER SYNDROME, TYPE II

    Red COL11A1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    • ibrochondrogenesis 1228520
    • Stickler syndrome, type II 604841
    • Marshall Syndrome 154780

    Green COL11A1 in DDG2P


    Version 2.60
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • STICKLER SYNDROME, TYPE II 604841
    • FIBROCHONDROGENESIS 228520

    Amber COL11A1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.218
    Latest signed off version: v2.5 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Deafness, autosomal dominant 37, OMIM:618533
    • Stickler syndrome, type II, OMIM:604841
    Tags
    • for-review

    Green COL11A1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.60
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • Marshall Syndrome, OMIM:154780
    • Stickler syndrome, type II, OMIM:604841

    Red COL11A1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1493
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Stickler syndrome, type II, 604841
    • Marshall syndrome, 154780
    • {Lumbar disc herniation, susceptibility to}, 603932
    • Fibrochondrogenesis, 228520

    Red COL11A1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.242
    Latest signed off version: v2.195 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Stickler syndrome, type II, OMIM:604841

    Red COL11A1 in Structural eye disease


    Version 1.94
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Marshall syndrome, 154780
    • Stickler syndrome, type II, 604841
    • Eye Disorders

    Red COL11A1 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Stickler syndrome type II
    • Congenital or cystic renal disease
    • MIM 604841

    Green COL11A1 in Severe Paediatric Disorders


    Version 1.112

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fibrochondrogenesis 1, 228520
    • ?Deafness, autosomal dominant 37, 618533
    • Stickler syndrome, type II, 604841
    • Marshall syndrome, 154780