Activity
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9 actions
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| Hereditary neuropathy or pain disorder v7.11 | TTC19 | Achchuthan Shanmugasundram Classified gene: TTC19 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.11 | TTC19 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there are three unrelated patents reported with biallelic TTC19 variants and motor neuropathy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.11 | TTC19 | Achchuthan Shanmugasundram Gene: ttc19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.10 | TTC19 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: TTC19. Tag Q3_25_NHS_review tag was added to gene: TTC19. |
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| Hereditary neuropathy or pain disorder v7.10 | TTC19 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in both OMIM (MIM #615157, OMIM accessed on 30 September 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.10 | TTC19 | Achchuthan Shanmugasundram Phenotypes for gene: TTC19 were changed from Ataxia; apraxia; dystonia; dysarthria; necrotic brain lesions; motor axonal neuropathy to Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157; mitochondrial complex III deficiency nuclear type 2, MONDO:0014063 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.9 | TTC19 | Achchuthan Shanmugasundram Publications for gene: TTC19 were set to 40946707; 37927170; 25652355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.8 | TTC19 | Achchuthan Shanmugasundram reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 25652355, 37927170, 40946707; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157, mitochondrial complex III deficiency nuclear type 2, MONDO:0014063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.8 | TTC19 |
Alexander Rossor gene: TTC19 was added gene: TTC19 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC19 were set to 40946707; 37927170; 25652355 Phenotypes for gene: TTC19 were set to Ataxia; apraxia; dystonia; dysarthria; necrotic brain lesions; motor axonal neuropathy Penetrance for gene: TTC19 were set to Complete Review for gene: TTC19 was set to GREEN Added comment: Evidence of motor axonal neuropathy in 3 unrelated individuals. Sources: Expert list |
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