Activity
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10 actions
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| Hereditary neuropathy or pain disorder v6.148 | TRMT5 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: TRMT5. Tag Q3_24_NHS_review was removed from gene: TRMT5. |
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| Hereditary neuropathy or pain disorder v6.148 | TRMT5 | Sarah Leigh reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | TRMT5 |
Sarah Leigh Source NHS GMS was added to TRMT5. Source Expert Review Green was added to TRMT5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.88 | TRMT5 |
Arina Puzriakova Tag Q3_24_promote_green tag was added to TRMT5. Tag Q3_24_NHS_review tag was added to TRMT5. |
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| Hereditary neuropathy or pain disorder v5.87 | TRMT5 | Arina Puzriakova Publications for gene: TRMT5 were set to 35342985: 26189817: 29021354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.86 | TRMT5 | Arina Puzriakova Classified gene: TRMT5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.86 | TRMT5 |
Arina Puzriakova Added comment: Comment on list classification: New gene added to the panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update. Associated with relevant phenotype in OMIM, but not associated with phenotype in G2P. At least 3 variants reported in at least three cases, together with supportive functional studies. Phenotype is characterised as a highly variable multisystemic disorder, ranging from hypotonia and GDD in infancy to exercise intolerance and muscle weakness in early adulthood. Peripheral neuropathy is a universal feature in all cases. Various other neurological features such as spasticity, cerebellar signs and seizures, and involvement of other organ systems, including the heart, pancreas, and kidney may also be observed. |
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| Hereditary neuropathy or pain disorder v5.86 | TRMT5 | Arina Puzriakova Gene: trmt5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.85 | TRMT5 | Arina Puzriakova Phenotypes for gene: TRMT5 were changed from develomental delay; spasticity; peripheral neuropathy to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | TRMT5 |
Alexander Rossor gene: TRMT5 was added gene: TRMT5 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to 35342985: 26189817: 29021354 Phenotypes for gene: TRMT5 were set to develomental delay; spasticity; peripheral neuropathy Penetrance for gene: TRMT5 were set to Complete Review for gene: TRMT5 was set to GREEN Added comment: Sources: Expert list |
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