| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.91 | MTHFR | Bryony Thompson Marked gene: MTHFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.91 | MTHFR | Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.91 | MTHFR | Bryony Thompson Classified gene: MTHFR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.91 | MTHFR | Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.90 | MTHFR |
Bryony Thompson gene: MTHFR was added gene: MTHFR was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFR were set to 41557084; 37972026; 37148062; 35693677; 35359558; 35018185; 34845156; 32880657; 31645654; 29391032; 29284203; 27118298 Disease associations for gene: MTHFR were set to homocystinuria due to methylene tetrahydrofolate reductase deficiency, MONDO:0009353 Review for gene: MTHFR was set to GREEN Added comment: Across multiple families harbouring biallelic loss‑of‑function MTHFR variants present with hereditary spastic paraplegia, often accompanied by hyperhomocysteinaemia, leukoencephalopathy or other neuro‑psychiatric features. Sources: Literature |
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