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| Early onset or syndromic epilepsy v4.144 | COX11 | Sarah Leigh edited their review of gene: COX11: Added comment: Epileptic seizures have been seen in 2/3 unrelated cases of Mitochondrial complex IV deficiency, nuclear type 23 (OMIM:620275) carrying two different COX11 variants (PMID: 36030551;38068960).; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.144 | COX11 | Sarah Leigh Tag Q4_23_promote_green was removed from gene: COX11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.144 | COX11 | Sarah Leigh Entity copied from Mitochondrial disorders v4.142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.144 | COX11 |
Sarah Leigh gene: COX11 was added gene: COX11 was added to Early onset or syndromic epilepsy. Sources: NHS GMS,Expert Review Amber Q4_23_promote_green tags were added to gene: COX11. Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX11 were set to 36030551; 38068960 Phenotypes for gene: COX11 were set to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 |
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