| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.357 | TRAK1 | Zornitza Stark Marked gene: TRAK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.357 | TRAK1 | Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.357 | TRAK1 | Zornitza Stark Classified gene: TRAK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.357 | TRAK1 | Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.356 | TRAK1 |
Zornitza Stark gene: TRAK1 was added gene: TRAK1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: TRAK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAK1 were set to 28940097; 28364549; 29846532; 28924745 Phenotypes for gene: TRAK1 were set to Epileptic encephalopathy, early infantile, 68, MIM# 618201 Review for gene: TRAK1 was set to GREEN Added comment: Six unrelated families reported with EE/ID phenotype. PMID 28924745 provides evidence that TRAK1 is a regulator of mitochondrial fusion. Sources: Expert list |
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