1. Genes and Genomic Entities
  2. FBN1

FBN1

fibrillin 1
OMIM: 134797, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Green FBN1 in Vasculitis


Level 2: Immunological disorders
Version 0.86

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green FBN1 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectopia lentis, familial (MIM#129600)
Green FBN1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.86

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Marfan syndrome (154700)
  • MASS syndrome (604308)
Green FBN1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Marfan syndrome, MIM# 154700
Green FBN1 in Cataract


Level 2: Ophthalmological disorders
Version 0.373

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Marfan syndrome, MIM# 154700
  • Weill-Marchesani syndrome 2, dominant, MIM# 608328
Green FBN1 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Marfan syndrome, MIM# 154700
Green FBN1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green FBN1 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Shprintzen-Goldberg syndrome
  • Marfan syndrome MIM#154700
Amber FBN1 in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani syndrome 2, dominant, MIM# 608328
Green FBN1 in Incidentalome


Version 0.318

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Phenotypes
  • Acromicric dysplasia (102370)
  • Ectopia lentis, familial (129600)
  • Geleophysic dysplasia 2 (614185)
  • Marfan lipodystrophy syndrome (616914)
  • Marfan syndrome (154700)
  • MASS syndrome (604308)
  • Stiff skin syndrome (184900)
  • Weill-Marchesani syndrome 2, dominant (608328)
Tags
  • cardiac
Green FBN1 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Marfan syndrome, MIM# 154700
  • Neonatal Marfan Syndrome - respiratory distress of the newborn/ pulmonary emphysema/ pneumothoraces.
Green FBN1 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Marfan lipodystrophy syndrome, MIM# 616914
Green FBN1 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.84

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Marfan syndrome, MIM# 154700
  • neonatal
Green FBN1 in Additional findings_Adult


Level 2: Screening
Version 0.167

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Marfan syndrome, MIM# 154700
Red FBN1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Marfan syndrome, MIM#154700
  • Geleophysic dysplasia 2, MIM#614185
  • Weill-Marchesani syndrome 2, dominant, MIM#608328
Tags
  • disputed
Green FBN1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.302

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Stiff skin syndrome 184900
  • Marfan syndrome 154700
  • Geleophysic dysplasia 2 614185
  • Weill-Marchesani syndrome 2, dominant 608328
  • Acromicric dysplasia 102370
Green FBN1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BabySeq Category A gene
Phenotypes
  • Marfan's syndrome
  • Weill-Marchesani syndrome 2, dominant
  • Shprintzen-Goldberg syndrome
Green FBN1 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green
Green FBN1 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.76

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Marfan syndrome 154700
    • Weill-Marchesani syndrome 2, dominant 608328
    • Stiff skin syndrome 184900
    • Acromicric dysplasia 102370
    • Geleophysic dysplasia 2 614185
    Green FBN1 in Fetal anomalies


    Version 1.313

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Marfan syndrome, MIM# 154700
    Green FBN1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Marfan syndrome, MIM# 154700
    Tags
    • cardiac
    • treatable
    Green FBN1 in Pneumothorax

    Level 3: Structural lung disorders
    Level 2: Respiratory disorders
    Version 1.0

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Eligibility statement prior genetic testing
    Phenotypes
    • Marfan syndrome, OMIM:154700
    Green FBN1 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Marfan syndrome, MIM# 154700
    Green FBN1 in Spontaneous coronary artery dissection


    Level 2: Cardiovascular disorders
    Version 0.56

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Marfan syndrome MIM#154700
    • familial thoracic aortic aneurysm and aortic dissection MONDO:0019625, FBN1-related