FBN1

fibrillin 1
OMIM: 134797, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels
Green FBN1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

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 3.16
Latest signed off version: v3.0 (22 Mar 2023)

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 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Marfan syndrome, OMIM:154700
Red FBN1 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0 (22 Mar 2023)

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 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green FBN1 in Lipodystrophy - childhood onset


Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Marfan lipodystrophy syndrome, OMIM:616914
Green FBN1 in Thoracic aortic aneurysm or dissection (GMS)


Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

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 1.127

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 5.4
Latest signed off version: v5.0 (1 May 2024)

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 syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.15
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Expert Review Green
    Phenotypes
    • Marfan syndrome, OMIM:154700
    Green FBN1 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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
    Green FBN1 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Marfan syndrome, OMIM:154700
    • Marfan lipodystrophy syndrome, OMIM:616914
    • craniosynostosis, MONDO:0015469
    No list FBN1 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
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green FBN1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328
    • MARFAN SYNDROME, OMIM:154700
    • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212
    • Marfan Syndrome, biallelic, OMIM:154700
    Red FBN1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • 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 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    Green FBN1 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
    • Weill-Marchesani syndrome 2, dominant, 608328
    • Ectopia lentis, familial, 129600
    • Geleophysic dysplasia 2, 614185
    • Marfan lipodystrophy syndrome, 616914
    • Stiff skin syndrome, 184900
    • Marfan syndrome, 154700
    • MASS syndrome, 604308
    • Acromicric dysplasia, 102370