Activity
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6 actions
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| Early onset or syndromic epilepsy v8.18 | MT-TK | Arina Puzriakova Classified gene: MT-TK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.18 | MT-TK | Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.18 | MT-TK | Arina Puzriakova Gene: mt-tk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.17 | MT-TK | Arina Puzriakova Classified gene: MT-TK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.17 | MT-TK | Arina Puzriakova Gene: mt-tk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.16 | MT-TK |
Arina Puzriakova gene: MT-TK was added gene: MT-TK was added to Early onset or syndromic epilepsy. Sources: Literature locus-type-rna-transfer, Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: MT-TK. Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL Publications for gene: MT-TK were set to 1463006; 8228033; 18651333; 29663531; 33766967 Phenotypes for gene: MT-TK were set to MERRF syndrome, MONDO:0010790 Review for gene: MT-TK was set to GREEN Added comment: Adding MT-TK to this panel by suggestion of North East and Yorkshire GLH where a patient was identified with a tier 3 diagnostic MT-TK variant due to absence of the gene on this applied panel. MT-TK gene has been associated with severe mitochondrial diseases which includes myoclonic epilepsy - multiple (at least 8) unrelated cases with epilepsy as a presenting feature have been reported in the literature (PMID: 1463006; 8228033; 18651333; 29663531; 33766967) Sources: Literature |
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