| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.61 | EEFSEC | Bryony Thompson Marked gene: EEFSEC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.61 | EEFSEC | Bryony Thompson Gene: eefsec has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.61 | EEFSEC | Bryony Thompson Classified gene: EEFSEC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.61 | EEFSEC | Bryony Thompson Gene: eefsec has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.60 | EEFSEC |
Bryony Thompson gene: EEFSEC was added gene: EEFSEC was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EEFSEC were set to 41517874; 39753114 Phenotypes for gene: EEFSEC were set to neurodevelopmental disorder with progressive spasticity and brain abnormalities, MONDO:0976233 Review for gene: EEFSEC was set to GREEN Added comment: PMID 39753114 reports nine individuals from eight families and PMID 41517874 reports a single individual from one additional family, totalling ten patients from nine families with biallelic loss‑of‑function EEFSEC variants presenting with early‑onset neurodevelopmental disorder characterised by progressive spasticity, ataxia, seizures, cerebellar and brainstem atrophy. Sources: Literature |
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