| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.7 | AARS2 | Bryony Thompson Marked gene: AARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.7 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.7 | AARS2 | Bryony Thompson Classified gene: AARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.7 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.6 | AARS2 |
Bryony Thompson gene: AARS2 was added gene: AARS2 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 35084689; 34285876; 31388113; 30272204; 28322004; 27749956 Phenotypes for gene: AARS2 were set to Mitochondrial disease, MONDO:0044970; hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia, MONDO:0009096; ovarioleukodystrophy, MONDO:0020506 Review for gene: AARS2 was set to GREEN Added comment: Adult-onset hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), an autosomal recessive loss‑of‑function AARS2 disease, can present with spastic paraparesis, cognitive decline and characteristic MRI changes. Sources: Literature |
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