| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.150 | NDUFA6 | Zornitza Stark Marked gene: NDUFA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.150 | NDUFA6 | Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.150 | NDUFA6 | Zornitza Stark Classified gene: NDUFA6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.150 | NDUFA6 | Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.149 | NDUFA6 |
Zornitza Stark gene: NDUFA6 was added gene: NDUFA6 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA6 were set to 30245030 Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253 Review for gene: NDUFA6 was set to GREEN gene: NDUFA6 was marked as current diagnostic Added comment: Four unrelated children reported with bi-allelic variants in this gene and delayed development and/or neurologic deterioration in the first weeks or years of life. Two individuals died in infancy; the other 2 were unable to stand, walk, or speak, and had optic atrophy. Sources: Expert list |
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