FBN1

PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan syndrome,154700
R-numbers: R21
Signed-off version 1.92
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 2.17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Marfan syndrome, 154700
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
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 1.3
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 1.2
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)