Activity
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14 actions
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| Optic neuropathy v5.28 | MT-ND3 | Ida Ertmanska Tag technical-limitations tag was added to gene: MT-ND3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.28 | MT-ND3 |
Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MT-ND3. Tag Q2_25_expert_review was removed from gene: MT-ND3. Tag Q2_25_ NHS_review was removed from gene: MT-ND3. |
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| Optic neuropathy v5.28 | MT-ND3 | Ida Ertmanska commented on gene: MT-ND3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.12 | MT-ND3 | Achchuthan Shanmugasundram Classified gene: MT-ND3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.12 | MT-ND3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, there is sufficient evidence available for the association of m.10197G>A variant from MT-ND3 gene with LHON/ LDYT. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.12 | MT-ND3 | Achchuthan Shanmugasundram Gene: mt-nd3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.11 | MT-ND3 | Achchuthan Shanmugasundram Phenotypes for gene: MT-ND3 were changed from to Leber hereditary optic neuropathy, MONDO:0010788; Leber optic atrophy and dystonia, MONDO:0010772 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.10 | MT-ND3 | Achchuthan Shanmugasundram edited their review of gene: MT-ND3: Changed phenotypes to: Leber hereditary optic neuropathy, MONDO:0010788, Leber optic atrophy and dystonia, MONDO:0010772 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.8 | MT-ND3 | Achchuthan Shanmugasundram Publications for gene: MT-ND3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.7 | MT-ND3 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-ND3. Tag Q2_25_expert_review tag was added to gene: MT-ND3. Tag Q2_25_ NHS_review tag was added to gene: MT-ND3. |
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| Optic neuropathy v5.7 | MT-ND3 |
Achchuthan Shanmugasundram changed review comment from: PMID:19458970 - Leber hereditary optic neuropathy and dystonia (LDYT) was reported in 18 patients from a Chinese family. They were identified with m.10197G>A variant (p.Ala47Thr). PMID:30199507 - A mother and daughter were reported with Leber hereditary optic neuropathy (LHON) and were identified with m.10197G>A variant. PMID:39923090 - A patient was reported with adult-onset Leigh syndrome (LS) and Leber hereditary optic neuropathy and dystonia (LDYT) and was identified with m.10197G>A variant. His mother also developed vision disturbance, epilepsy, and abnormal gait in her second decade and harboured the same variant.; to: PMID:19458970 - Leber hereditary optic neuropathy and dystonia (LDYT) was reported in 18 patients from a Chinese family. They were identified with m.10197G>A variant (p.Ala47Thr). PMID:30199507 - A mother and daughter were reported with Leber hereditary optic neuropathy (LHON) and were identified with m.10197G>A variant. PMID:39923090 - A patient was reported with adult-onset Leigh syndrome (LS) and Leber hereditary optic neuropathy and dystonia (LDYT) and was identified with m.10197G>A variant. His mother also developed vision disturbance, epilepsy, and abnormal gait in her second decade and harboured the same variant. This publication also reviewed previously published cases, and reported a total of 84 participants (78 patients and 6 asymptomatic carriers) harbouring the m.10197G>A variant. LHON and LDYT were reported in 18 and six patients each. |
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| Optic neuropathy v5.7 | MT-ND3 | Achchuthan Shanmugasundram reviewed gene: MT-ND3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19458970, 30199507, 39923090; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.3 | MT-ND3 | Katherine Schon reviewed gene: MT-ND3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30199507, 19458970; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.2 | MT-ND3 |
Achchuthan Shanmugasundram gene: MT-ND3 was added gene: MT-ND3 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL |
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