FBN1

fibrillin 1
OMIM: 134797, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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