| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.11 | ACBD6 | Bryony Thompson Marked gene: ACBD6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.11 | ACBD6 | Bryony Thompson Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.11 | ACBD6 | Bryony Thompson Classified gene: ACBD6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.11 | ACBD6 | Bryony Thompson Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.10 | ACBD6 |
Bryony Thompson gene: ACBD6 was added gene: ACBD6 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 37951597 Phenotypes for gene: ACBD6 were set to neurodevelopmental disorder with progressive movement abnormalities, MONDO:0968976 Review for gene: ACBD6 was set to GREEN Added comment: PMID 37951597 reports 45 individuals from 28 families (20 independent) with autosomal recessive ACBD6 loss‑of‑function variants presenting with a neurodevelopmental syndrome characterised by global developmental delay, intellectual disability, expressive language impairment, spasticity, hypertonia, cerebellar ataxia, dystonia, tremor, parkinsonism, epilepsy and facial dysmorphism. Lower limb spasticity was present in 27/35 (77%) individuals. Sources: Literature |
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