Genomics England

FBN1

fibrillin 1

Panel	Mode of inheritance	Details
Filter panels9 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
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Marfan syndrome, OMIM:154700
Green in Fetal anomalies 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
Green in Pneumothorax - familial R-numbers: R190 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Marfan syndrome, OMIM:154700
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis 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
Green in Severe insulin resistance and lipodystrophy syndromes R-numbers: R158 Signed-off version 4.56	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Marfan lipodystrophy syndrome, OMIM:616914
Green in Skeletal dysplasia 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
Green in Structural eye disease 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
Green in Thoracic aortic aneurysm or dissection (GMS) 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)