| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Severe Paediatric Disorders v0.17 | FBLN5 | Louise Daugherty Mode of inheritance for gene FBLN5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | FBLN5 | Louise Daugherty reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | FBLN5 | Louise Daugherty Publications for gene FBLN5 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | FBLN5 | Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FBLN5 | Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FBLN5 | Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | FBLN5 | Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IA, 219100; ?Cutis laxa, autosomal dominant 2, 614434; Macular degeneration, age-related, 3, 608895; Neuropathy, hereditary, with or without age-related macular degeneration, 608895 for gene: FBLN5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | FBLN5 | Louise Daugherty Source Next Generation Children Project was added to FBLN5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | FBLN5 |
Louise Daugherty Source Expert Review Green was added to FBLN5. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.4 | FBLN5 |
Louise Daugherty gene: FBLN5 was added gene: FBLN5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FBLN5 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||