Activity
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7 actions
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| Intellectual disability v8.97 | TRMT5 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: TRMT5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | TRMT5 | Sarah Leigh reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | 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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| Intellectual disability v7.64 | TRMT5 | Arina Puzriakova Tag Q3_24_NHS_review was removed from gene: TRMT5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.64 | TRMT5 |
Arina Puzriakova changed review comment from: 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.; to: Comment on list classification: 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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| Intellectual disability v7.64 | TRMT5 | Arina Puzriakova Entity copied from Hereditary neuropathy or pain disorder v5.88 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.64 | TRMT5 |
Arina Puzriakova gene: TRMT5 was added gene: TRMT5 was added to Intellectual disability. Sources: Expert list,Expert Review Amber Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: TRMT5. 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 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 Penetrance for gene: TRMT5 were set to Complete |
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