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| Early onset or syndromic epilepsy v4.135 | TEFM | Achchuthan Shanmugasundram Classified gene: TEFM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.135 | TEFM | Achchuthan Shanmugasundram Gene: tefm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.134 | TEFM | Achchuthan Shanmugasundram changed review comment from: Three patients from two unrelated families with biallelic TEFM variants had seizures.; to: PMID:36823193 reported seven individuals from five unrelated families presenting with mitochondrial respiratory chain deficiency and they were identified with biallelic TEFM variants. Three of these patients from two unrelated families had seizures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.134 | TEFM | Achchuthan Shanmugasundram reviewed gene: TEFM: Rating: AMBER; Mode of pathogenicity: None; Publications: 36823193; Phenotypes: Combined oxidative phosphorylation deficiency 58, OMIM:620451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.134 | TEFM | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v4.116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.134 | TEFM |
Achchuthan Shanmugasundram gene: TEFM was added gene: TEFM was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 36823193 Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, OMIM:620451 |
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