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| Severe Paediatric Disorders v0.17 | FBN1 | Louise Daugherty Mode of inheritance for gene FBN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | FBN1 | Louise Daugherty reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | FBN1 | Louise Daugherty Publications for gene FBN1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | FBN1 | Louise Daugherty Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FBN1 | Louise Daugherty Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FBN1 | Louise Daugherty Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | FBN1 | Louise Daugherty Added phenotypes Marfan syndrome, 154700; Weill-Marchesani syndrome 2, dominant, 608328; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Acromicric dysplasia, 102370; Ectopia lentis, familial, 129600 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | FBN1 | Louise Daugherty Source Next Generation Children Project was added to FBN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | FBN1 |
Louise Daugherty Source Expert Review Green was added to FBN1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | FBN1 |
Louise Daugherty gene: FBN1 was added gene: FBN1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FBN1 was set to |
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