Activity
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13 actions
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| Optic neuropathy v5.28 | MT-TL1 |
Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MT-TL1. Tag Q2_25_expert_review was removed from gene: MT-TL1. Tag Q2_25_ NHS_review was removed from gene: MT-TL1. Tag technical-limitations tag was added to gene: MT-TL1. |
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| Optic neuropathy v5.28 | MT-TL1 | Ida Ertmanska commented on gene: MT-TL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.6 | MT-TL1 | Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.6 | MT-TL1 | Achchuthan Shanmugasundram Classified gene: MT-TL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.6 | MT-TL1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, there is sufficient evidence available for the association of m.3243 A > G heteroplasmic variant from MT-TL1 with optic neuropathy/ optic atrophy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.6 | MT-TL1 | Achchuthan Shanmugasundram Gene: mt-tl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.5 | MT-TL1 | Achchuthan Shanmugasundram Phenotypes for gene: MT-TL1 were changed from to MELAS syndrome caused by mutation in MTTL1, MONDO:0800032; optic atrophy, MONDO:0003608 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.4 | MT-TL1 | Achchuthan Shanmugasundram Publications for gene: MT-TL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.3 | MT-TL1 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TL1. Tag Q2_25_expert_review tag was added to gene: MT-TL1. Tag Q2_25_ NHS_review tag was added to gene: MT-TL1. |
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| Optic neuropathy v5.3 | MT-TL1 |
Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Added comment: As per https://www.mitophen.org, there are seven different patients reported in peer-reviewed scientific literature with m.3243A>G variant and with optic atrophy as one of the presenting phenotypes. Two additional patients were reported with optic disc pallor as one of the phenotypes. PMID:7599199 - 14 patients with heteroplasmic m.3243A>G variant, of which only six patients had seizures and recurrent strokes, the core clinical features of the MELAS phenotype. One of them presented with optic atrophy. PMID:7600089 - 22 probands with heteroplasmic m.3243A>G variant, of which 10 had clinical features consistent with MELAS syndrome. One had optic atrophy. PMID:8363452 - A 15-year-old boy was reported with heteroplasmic m.3243A>G variant and with bilateral optic atrophy since 8 years of age. PMID:8676159 - An 18-year-old male patient was reported with myoclonic epilepsy with ragged red fibres (MERRF) syndrome and with heteroplasmic m.3243A>G variant. The patient had bialateral optic atrophy. PMID:9228247 - Two patients with MELAS syndrome and m.3243A>G variant were reported with optic neuropathy. PMID:9619647 - A 21 year-old male patient with overlapping MELAS (mitochondrial encephalomyopathy, lactic acidosis, and 'stroke-like' episodes) and Kearns-Sayre syndrome. The heteroplasmic m.3243A>G variant has been identified in muscle tissue (79%), fibroblasts (49%) and blood cells (37%). There was no variant identified in E1alpha gene. Optic atrophy reported. PMID:22249460 - The m.3243A>G variant was identified in half of 14 patients reported in this study, of which optic atrophy was present in two. PMID:37095452 - Ischemic optic neuropathy reported as the first presentation in a patient with m.3243 A > G variant responsible for MELAS syndrome.; Changed publications to: 7599199, 7600089, 8363452, 8676159, 9228247, 9619647, 22249460, 37095452 |
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| Optic neuropathy v5.3 | MT-TL1 | Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MELAS syndrome caused by mutation in MTTL1, MONDO:0800032, optic atrophy, MONDO:0003608; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.3 | MT-TL1 | Katherine Schon reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9228247, 39423307, 37095452; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.2 | MT-TL1 |
Achchuthan Shanmugasundram gene: MT-TL1 was added gene: MT-TL1 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Mode of pathogenicity for gene: MT-TL1 was set to Other |
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