Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.12 | TTC21B | Louise Daugherty reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | TTC21B | Louise Daugherty Publications for gene TTC21B were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | TTC21B | Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TTC21B | Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TTC21B | Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TTC21B | Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TTC21B |
Louise Daugherty Mode of inheritance for gene TTC21B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | TTC21B | Louise Daugherty Source Next Generation Children Project was added to TTC21B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | TTC21B |
Louise Daugherty Source Expert Review Green was added to TTC21B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | TTC21B |
Louise Daugherty gene: TTC21B was added gene: TTC21B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TTC21B was set to |