| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.53 | DARS2 | Bryony Thompson Marked gene: DARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.53 | DARS2 | Bryony Thompson Gene: dars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.53 | DARS2 | Bryony Thompson Classified gene: DARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.53 | DARS2 | Bryony Thompson Gene: dars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.52 | DARS2 |
Bryony Thompson changed review comment from: PMID 33977142 reports 9 individuals with early-onset severe cerebral hypoplasia/atrophy with biallelic DARS2 variants presenting with spasticity present in all cases. The disease is a recessive loss‑of‑function mitochondrial disorder, supported by segregation and yeast functional assays, meeting the PanelApp diagnostic‑grade criteria. Sources: Literature; to: PMID 33977142 reports 9 individuals with early-onset severe cerebral hypoplasia/atrophy with biallelic DARS2 variants with spasticity present in all cases. The disease is a recessive loss‑of‑function mitochondrial disorder, supported by segregation and yeast functional assays, meeting the PanelApp diagnostic‑grade criteria. Sources: Literature |
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| Hereditary Spastic Paraplegia v2.52 | DARS2 |
Bryony Thompson gene: DARS2 was added gene: DARS2 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 33977142 Phenotypes for gene: DARS2 were set to leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, MONDO:0012622 Review for gene: DARS2 was set to GREEN Added comment: PMID 33977142 reports 9 individuals with early-onset severe cerebral hypoplasia/atrophy with biallelic DARS2 variants presenting with spasticity present in all cases. The disease is a recessive loss‑of‑function mitochondrial disorder, supported by segregation and yeast functional assays, meeting the PanelApp diagnostic‑grade criteria. Sources: Literature |
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