| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Leukodystrophy - paediatric v0.90 | EARS2 | Zornitza Stark Marked gene: EARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.90 | EARS2 | Zornitza Stark Gene: ears2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.90 | EARS2 | Zornitza Stark Classified gene: EARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.90 | EARS2 | Zornitza Stark Gene: ears2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.89 | EARS2 |
Zornitza Stark gene: EARS2 was added gene: EARS2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EARS2 were set to 22492562; 23008233; 25854774; 26619324; 26893310 Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, MIM# 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate Review for gene: EARS2 was set to GREEN Added comment: Multiple families reported, onset typically in infancy/childhood. Sources: Expert list |
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