| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.25 | ANO10 | Bryony Thompson Marked gene: ANO10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.25 | ANO10 | Bryony Thompson Gene: ano10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.25 | ANO10 | Bryony Thompson Classified gene: ANO10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.25 | ANO10 | Bryony Thompson Gene: ano10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.24 | ANO10 |
Bryony Thompson gene: ANO10 was added gene: ANO10 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANO10 were set to 41357347; 40322871; 40128498; 37853290; 35110481; 30515630; 29482223 Phenotypes for gene: ANO10 were set to autosomal recessive spinocerebellar ataxia 10, MONDO:0013392 Review for gene: ANO10 was set to GREEN Added comment: PMID 29482223, PMID 30515630, PMID 37853290, PMID 40128498, PMID 41357347, PMID 35110481, PMID 40322871 and PMID 35110481 report biallelic loss‑of‑function ANO10 variants presenting with autosomal recessive spastic cerebellar ataxia (SCAR10), characterised by progressive gait ataxia, cerebellar atrophy, spasticity/pyramidal signs and variable cognitive decline; additional features include pendular nystagmus (PMID 40128498) and adult‑onset disease. Sources: Literature |
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