FBN1

fibrillin 1
OMIM: 134797, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green FBN1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

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

Red FBN1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1
Signed off v.2.0 on 11 Dec 2019

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Marfan syndrome 154700

Green FBN1 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.16
Signed off v.2.0 on 5 Nov 2019

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Marfan syndrome, 154700

Red FBN1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.3
Signed off v.2.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • congenital ectopia lentis
  • Marfan syndrome
  • Weill-Marchesani syndrome

Red FBN1 in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Green FBN1 in Thoracic aortic aneurysm and dissection


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • South West GLH
  • London South GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Weill-Marchesani syndrome 2, dominant, (608328)
  • Marfan syndrome (154700)
  • Ectopia lentis, familial (129600)
  • Marfan lipodystrophy syndrome (616914)
  • MASS syndrome (604308)
  • Stiff skin syndrome (184900)
  • Geleophysic dysplasia 2 (614185)
  • Marfan Syndrome
  • Aortic aneurysm, ascending, and dissection
  • ongenital contracturalarachnodactyly
  • Acromicric dysplasia (102370)

Green FBN1 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.112

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ectopia lentis, familial (129600)
  • Marfan syndrome (154700)
  • Marfan lipodystrophy syndrome (616914)
  • Aortic aneurysm, ascending, and dissection
  • Weill-Marchesani syndrome 2, dominant, (608328)
  • Acromicric dysplasia (102370)
  • Stiff skin syndrome (184900)
  • MASS syndrome (604308)
  • ongenital contracturalarachnodactyly
  • Geleophysic dysplasia 2 (614185)
  • Marfan Syndrome

Green FBN1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Geleophysic dysplasia 2 614185
    • Stiff skin syndrome 184900
    • Marfan syndrome 154700
    • Acromicric dysplasia 102370
    • Weill-Marchesani syndrome 2, dominant 608328

    Green FBN1 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.2
    Signed off v.2.1 on 4 Sep 2019

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert list
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Marfan syndrome,154700

    Green FBN1 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
    • MARFAN SYNDROME
    • MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE

    Red FBN1 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Marfan syndrome

    No list FBN1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature

    Green FBN1 in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ISOLATED ECTOPIA LENTIS 129600
    • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
    • MARFAN SYNDROME 154700
    • WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328
    • MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308
    Tags
    • watchlist

    Amber FBN1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Marfan syndrome 154700
    • MASS syndrome 604308
    • Weill-Marchesani syndrome 2, dominant 608328
    • Marfan lipodystrophy syndrome 616914

    Green FBN1 in Structural eye disease


    Version 1.2
    Signed off v.1.0 on 19 Nov 2019

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Marfan syndrome, 154700
    • Weill-Marchesani syndrome 2, dominant, 608328
    • MASS syndrome, 604308
    • Marfan lipodystrophy syndrome, 616914
    • Ectopia lentis, familial, 129600