| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.19 | AFG2A | Bryony Thompson Marked gene: AFG2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.19 | AFG2A | Bryony Thompson Gene: afg2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.19 | AFG2A | Bryony Thompson Classified gene: AFG2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.19 | AFG2A | Bryony Thompson Gene: afg2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.18 | AFG2A |
Bryony Thompson gene: AFG2A was added gene: AFG2A was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: AFG2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AFG2A were set to 41933351 Phenotypes for gene: AFG2A were set to microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, MONDO:0014698 Review for gene: AFG2A was set to GREEN Added comment: PMID 41933351 reports 51 individuals from 46 families with biallelic AFG2A (SPATA5) variants presenting with childhood‑onset spasticity, microcephaly, intellectual disability, sensorineural hearing loss and infantile epileptic spasms syndrome. Spasticity was identified in 60.87% of individuals. Functional studies show mitochondrial dysfunction in patient cells but no variant‑specific rescue or animal model. Sources: Literature |
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