Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mendeliome v1.3168 | MT-ND1 | Zornitza Stark Marked gene: MT-ND1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.3168 | MT-ND1 | Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.3168 | MT-ND1 | Zornitza Stark Classified gene: MT-ND1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.3168 | MT-ND1 | Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.3167 | MT-ND1 |
Zornitza Stark gene: MT-ND1 was added gene: MT-ND1 was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-ND1. Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL Publications for gene: MT-ND1 were set to 39147111; 36717040; 34656796 Phenotypes for gene: MT-ND1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related Review for gene: MT-ND1 was set to GREEN Added comment: Multiple individuals reported with variants in this gene and a range of phenotypes consistent with mitochondrial disease, including LHON and Leigh syndrome. Sources: Expert list |