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| Mitochondrial disease v0.539 | COX4I1 | Zornitza Stark Phenotypes for gene: COX4I1 were changed from short stature; mild dysmorphic features; Fanconi anemia to Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060; regression; seizures; short stature; mild dysmorphic features; Fanconi anemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.538 | COX4I1 | Zornitza Stark Publications for gene: COX4I1 were set to 28766551; 22592081 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.537 | COX4I1 | Zornitza Stark Classified gene: COX4I1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.537 | COX4I1 | Zornitza Stark Gene: cox4i1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.536 | COX4I1 | Zornitza Stark edited their review of gene: COX4I1: Added comment: Further family with two affected sibs reported in PMID 31290619, upgrade to Amber.; Changed rating: AMBER; Changed publications: 28766551, 22592081, 31290619; Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.431 | COX4I1 | Zornitza Stark Marked gene: COX4I1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.431 | COX4I1 | Zornitza Stark Gene: cox4i1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.431 | COX4I1 | Zornitza Stark Publications for gene: COX4I1 were set to 28766551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | COX4I1 | Zornitza Stark changed review comment from: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.331 | COX4I1 | Zornitza Stark reviewed gene: COX4I1: Rating: RED; Mode of pathogenicity: None; Publications: 28766551, 22592081; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.312 | COX4I1 |
Bryony Thompson gene: COX4I1 was added gene: COX4I1 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX4I1 were set to 28766551 Phenotypes for gene: COX4I1 were set to short stature; mild dysmorphic features; Fanconi anemia Review for gene: COX4I1 was set to RED Added comment: Single family with a homozygous variant, with assays in patient fibroblasts only. Sources: NHS GMS |
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