| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Leukodystrophy - paediatric v0.62 | CTC1 | Zornitza Stark Marked gene: CTC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.62 | CTC1 | Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.62 | CTC1 | Zornitza Stark Classified gene: CTC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.62 | CTC1 | Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.61 | CTC1 |
Zornitza Stark gene: CTC1 was added gene: CTC1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22267198; 22387016 Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Review for gene: CTC1 was set to GREEN Added comment: Onset typically in infancy/childhood with intracranial calcifications, leukoencephalopathy, and early-onset retinal changes, associated with extra-neurologic manifestations including early-onset bone fractures, gastrointestinal ectasia, and variable hair, nail, and skin changes, and/or anemia. Sources: Expert list |
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