| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.448 | TOMM70 | Zornitza Stark Publications for gene: TOMM70 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark edited their review of gene: TOMM70: Changed publications: 31907385 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark Marked gene: TOMM70 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark Classified gene: TOMM70 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.446 | TOMM70 |
Zornitza Stark gene: TOMM70 was added gene: TOMM70 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: TOMM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TOMM70 were set to Severe anaemia; Lactic acidosis; Developmental delay Review for gene: TOMM70 was set to AMBER Added comment: TOM70 is a member of the TOM complex that transports cytosolic proteins into mitochondria. One individual reported with compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)]. Clinical features included severe anaemia, lactic acidosis, and developmental delay. Some functional data: in vitro cell model compensatory experiments. Sources: Literature |
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