PanelApp
  1. Genes and Genomic Entities
  2. FBN1

FBN1

fibrillin 1
OMIM: 134797, ClinGen, DECIPHER

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green FBN1 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 2.0

1 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 2.0

1 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 2.1

1 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 2.0

1 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 2.0

1 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 1.10

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

Green FBN1 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Shprintzen-Goldberg syndrome
  • Marfan syndrome MIM#154700

Amber FBN1 in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.7

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • MONDO:0007947 Marfan Syndrome

    Amber FBN1 in Glaucoma congenital


    Level 2: Ophthalmological disorders
    Version 2.0

    		1 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 1.8

    		2 reviews 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 Lipodystrophy_Lipoatrophy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.4

    		1 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 2.3

    		1 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 3.0

    		1 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 2.50

    		2 reviews 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 1.6

    		0 reviews 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 Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.51

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Marfan syndrome MIM#154700

    Green FBN1 in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

    		1 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 1.0

    		1 review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green FBN1 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  0 reviews 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 2.16

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Marfan syndrome, MIM# 154700

    Green FBN1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

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

    Green FBN1 in Pneumothorax

    Level 3: Structural lung disorders
    Level 2: Respiratory disorders
    Version 2.3

    		1 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


    Level 2: Screening
    Version 1.0

    		0 reviews 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 1.0

    		1 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