| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.335 | EXOSC3 | Zornitza Stark Marked gene: EXOSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.335 | EXOSC3 | Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.335 | EXOSC3 | Zornitza Stark Classified gene: EXOSC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.335 | EXOSC3 | Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.334 | EXOSC3 |
Zornitza Stark gene: EXOSC3 was added gene: EXOSC3 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 28687512 Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction Review for gene: EXOSC3 was set to AMBER Added comment: Gene-disease association with PCH is well established; one individual reported with mitochondrial dysfunction, postulated to be due to reduced degradation by a dysfunctional exosome complex. Sources: Expert list |
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