FBN1

fibrillin 1
OMIM: 134797, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red FBN1 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	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 2: Respiratory Version 3.6 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 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes congenital ectopia lentis Marfan syndrome Weill-Marchesani syndrome
Green FBN1 in Lipodystrophy - childhood onset Level 2: Endocrinology Version 4.67 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) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	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 1.129	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 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) 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 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Emory Genetics Laboratory Phenotypes Marfan syndrome, OMIM:154700
Green FBN1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green FBN1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	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