FBN1

PanelMode of inheritanceDetails
9 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, MARFAN SYNDROME, OMIM:154700, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212, Marfan Syndrome, biallelic, OMIM:154700
R-numbers: R101
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan syndrome, OMIM:154700
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, MARFAN SYNDROME, MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE
R-numbers: R190
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Marfan syndrome, OMIM:154700
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan syndrome, OMIM:154700, Marfan lipodystrophy syndrome, OMIM:616914, craniosynostosis, MONDO:0015469
R-numbers: R158
Signed-off version 4.56
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan lipodystrophy syndrome, OMIM:616914
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Geleophysic dysplasia 2 614185, Stiff skin syndrome 184900, Marfan syndrome 154700, Acromicric dysplasia 102370, Weill-Marchesani syndrome 2, dominant 608328
R-numbers: R36
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan syndrome, 154700, Weill-Marchesani syndrome 2, dominant, 608328, MASS syndrome, 604308, Marfan lipodystrophy syndrome, 616914, Ectopia lentis, familial, 129600
R-numbers: R125
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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)