Activity
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12 actions
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| Optic neuropathy v5.28 | MT-TS2 |
Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MT-TS2. Tag Q2_25_expert_review was removed from gene: MT-TS2. Tag Q2_25_ NHS_review was removed from gene: MT-TS2. Tag technical-limitations tag was added to gene: MT-TS2. |
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| Optic neuropathy v5.28 | MT-TS2 | Ida Ertmanska commented on gene: MT-TS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.23 | MT-TS2 | Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.23 | MT-TS2 | Achchuthan Shanmugasundram Classified gene: MT-TS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.23 | MT-TS2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Katherine Schon has reviewed this gene green on this panel. However, the ophthalmological phenotypes reported in the families identified with m.12258C>A variant are retinitis pigmentosa and cataracts. Hence, expert review is sought from the Genomic Medicine Service on the rating of MT-TS2 gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.23 | MT-TS2 | Achchuthan Shanmugasundram Gene: mt-ts2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.22 | MT-TS2 |
Achchuthan Shanmugasundram changed review comment from: PMIDs: 8432539;9135384;10090882 - A large Irish kindred was reported with progressive sensorineural hearing loss and retinitis pigmentosa. The patient also had optic disc pallor and progressive visual loss. They were identified with pathogenic m.12258C>A variant in MT-TS2 gene. PMID:9792552 - A 61-year-old mother and 30-year old daughter were reported with maternally inherited syndrome consisting of cerebellar ataxia, cataracts, deafness and diabetes. They were identified with m.12258C>A variant. PMID:12086967 - This study reported 28 patients that had maternally inherited diabetes with or without one or more additional features of mitochondrial disease, including bilateral sensorineural deafness and neuromuscular disease. One of these patients with additional features (cerebellar ataxia, bilateral nerve deafness and cataracts) harboured m.12258C>A variant.; to: PMIDs: 8432539;9135384;10090882 - A large Irish kindred was reported with progressive sensorineural hearing loss and retinitis pigmentosa. The patients also had optic disc pallor and progressive visual loss. They were identified with pathogenic m.12258C>A variant in MT-TS2 gene. PMID:9792552 - A 61-year-old mother and 30-year old daughter were reported with maternally inherited syndrome consisting of cerebellar ataxia, cataracts, deafness and diabetes. They were identified with m.12258C>A variant. PMID:12086967 - This study reported 28 patients that had maternally inherited diabetes with or without one or more additional features of mitochondrial disease, including bilateral sensorineural deafness and neuromuscular disease. One of these patients with additional features (cerebellar ataxia, bilateral nerve deafness and cataracts) harboured m.12258C>A variant. |
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| Optic neuropathy v5.22 | MT-TS2 | Achchuthan Shanmugasundram Publications for gene: MT-TS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.21 | MT-TS2 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TS2. Tag Q2_25_expert_review tag was added to gene: MT-TS2. Tag Q2_25_ NHS_review tag was added to gene: MT-TS2. |
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| Optic neuropathy v5.21 | MT-TS2 | Achchuthan Shanmugasundram reviewed gene: MT-TS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8432539, 9135384, 9792552, 10090882, 12086967; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.3 | MT-TS2 | Katherine Schon reviewed gene: MT-TS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9135384, 10090882, 8432539; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.2 | MT-TS2 |
Achchuthan Shanmugasundram gene: MT-TS2 was added gene: MT-TS2 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL Mode of pathogenicity for gene: MT-TS2 was set to Other |
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