| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Skeletal dysplasia v1.10 | FBN1 | chirag patel Phenotypes for gene: FBN1 were changed from Stiff skin syndrome 184900; Marfan syndrome 154700; Geleophysic dysplasia 2 614185; Weill-Marchesani syndrome 2, dominant 608328; Acromicric dysplasia 102370 to Acromicric dysplasia, MONDO:0007055; Geleophysic dysplasia 2, MONDO:0013612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.9 | FBN1 | chirag patel Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.9 | FBN1 | chirag patel Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.9 | FBN1 | chirag patel reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21683322; Phenotypes: Acromicric dysplasia, MONDO:0007055, Geleophysic dysplasia 2, MONDO:0013612; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.0 | FBN1 | Gene migrated from ENSG00000166147 to ENSG00000166147 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | FBN1 |
Zornitza Stark gene: FBN1 was added gene: FBN1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN1 were set to Stiff skin syndrome 184900; Marfan syndrome 154700; Geleophysic dysplasia 2 614185; Weill-Marchesani syndrome 2, dominant 608328; Acromicric dysplasia 102370 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||