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| Aortopathy_Connective Tissue Disorders v0.56 | FBN1 | Zornitza Stark Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.56 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.56 | FBN1 | Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome (154700); MASS syndrome (604308) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.55 | FBN1 | Zornitza Stark Publications for gene: FBN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.54 | FBN1 | Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.11 | FBN1 | Melanie Marty reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29357934; Phenotypes: Acromicric dysplasia (102370), Ectopia lentis, familial (129600), Geleophysic dysplasia 2 (614185), Marfan lipodystrophy syndrome (616914), Marfan syndrome (154700), MASS syndrome (604308), Stiff skin syndrome (184900), Weill-Marchesani syndrome 2, dominant (608328); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.0 | FBN1 |
Zornitza Stark gene: FBN1 was added gene: FBN1 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FBN1 was set to Unknown |
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