| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.13 | ACO2 | Bryony Thompson Marked gene: ACO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.13 | ACO2 | Bryony Thompson Gene: aco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.13 | ACO2 | Bryony Thompson Classified gene: ACO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.13 | ACO2 | Bryony Thompson Gene: aco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.12 | ACO2 |
Bryony Thompson gene: ACO2 was added gene: ACO2 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACO2 were set to 33500398; 32519519; 29577077; 29564393 Phenotypes for gene: ACO2 were set to Mitochondrial disease, MONDO:0044970 Review for gene: ACO2 was set to GREEN Added comment: PMID 32519519 reports four families with biallelic ACO2 loss‑of‑function variants, including a homozygous frameshift (c.2338_2339delCA) causing progressive spastic quadriplegia; PMID 33500398 describes one family with compound heterozygous missense variants presenting as complex hereditary spastic paraplegia with episodic visual loss and intellectual disability; PMID 29577077 presents a consanguineous Arab‑Bedouin family with a homozygous missense p.Phe414Val causing complicated hereditary spastic paraplegia, microcephaly and intellectual disability; PMID 29564393 reports one family with a missense and splice variant causing progressive spastic paraplegia, severe optic atrophy and mild cognitive impairment. In total, seven unrelated families (seven independent) with qualifying biallelic loss‑of‑function or splice variants have been described, all showing reduced aconitase activity in patient cells, supporting a loss‑of‑function mechanism. Sources: Literature |
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