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| Mendeliome v0.5122 | COX4I1 | Zornitza Stark Marked gene: COX4I1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5122 | COX4I1 | Zornitza Stark Gene: cox4i1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5122 | COX4I1 | Zornitza Stark Classified gene: COX4I1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5122 | COX4I1 | Zornitza Stark Gene: cox4i1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5121 | COX4I1 |
Zornitza Stark gene: COX4I1 was added gene: COX4I1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX4I1 were set to 28766551; 22592081; 31290619 Phenotypes for gene: COX4I1 were set to Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 Review for gene: COX4I1 was set to AMBER Added comment: Two unrelated families reported. Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals, i.e. heterozygous in each individual. Sources: Expert list |
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