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| Hereditary neuropathy or pain disorder v3.58 | COX20 | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: COX20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.58 | COX20 | Sarah Leigh reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.57 | COX20 |
Achchuthan Shanmugasundram Source Expert Review Green was added to COX20. Source NHS GMS was added to COX20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v2.14 | COX20 | Mafalda Gomes Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.13 | COX20 | Mafalda Gomes Phenotypes for gene: COX20 were changed from Neuropathy to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.12 | COX20 | Mafalda Gomes Publications for gene: COX20 were set to 33751098; 30656193; 24202787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.11 | COX20 | Mafalda Gomes Publications for gene: COX20 were set to 33751098 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.10 | COX20 | Mafalda Gomes Tag Q1_23_promote_green tag was added to gene: COX20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.9 | COX20 | Mafalda Gomes reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: 30656193, 33751098, 24202787; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.8 | COX20 |
Mafalda Gomes Source Expert Review Amber was added to COX20. Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Hereditary neuropathy or pain disorder v1.63 | COX20 |
Zornitza Stark gene: COX20 was added gene: COX20 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX20 were set to 33751098 Phenotypes for gene: COX20 were set to Neuropathy Review for gene: COX20 was set to GREEN gene: COX20 was marked as current diagnostic Added comment: Well established association with mitochondrial disease, presentation with neuropathy reported PMID 33751098 Sources: Literature |
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