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| Hereditary neuropathy v1.453 | MT-TL1 | Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.353 | MT-TL1 |
Louise Daugherty Source Expert Review Green was added to MT-TL1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary neuropathy v1.352 | MT-TL1 | Louise Daugherty edited their review of gene: MT-TL1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.300 | MT-TL1 | Louise Daugherty reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.192 | MT-TL1 | Louise Daugherty Phenotypes for gene: MT-TL1 were changed from to Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.121 | MT-TL1 | Alexander Rossor reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.119 | MT-TL1 | Louise Daugherty Source NHS GMS was added to MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.118 | MT-TL1 |
Louise Daugherty gene: MT-TL1 was added gene: MT-TL1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL |
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