Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.17 | FAT4 | Louise Daugherty Mode of inheritance for gene FAT4 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | FAT4 | Louise Daugherty reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | FAT4 | Louise Daugherty Publications for gene FAT4 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | FAT4 | Louise Daugherty Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546 for gene: FAT4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | FAT4 | Louise Daugherty Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546 for gene: FAT4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | FAT4 | Louise Daugherty Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546 for gene: FAT4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | FAT4 | Louise Daugherty Added phenotypes Van Maldergem syndrome 2, 615546; Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 for gene: FAT4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | FAT4 | Louise Daugherty Source Next Generation Children Project was added to FAT4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | FAT4 |
Louise Daugherty Source Expert Review Green was added to FAT4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | FAT4 |
Louise Daugherty gene: FAT4 was added gene: FAT4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FAT4 was set to |