| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.15 | ACP5 | Bryony Thompson Marked gene: ACP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.15 | ACP5 | Bryony Thompson Gene: acp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.15 | ACP5 | Bryony Thompson Classified gene: ACP5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.15 | ACP5 | Bryony Thompson Gene: acp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.14 | ACP5 |
Bryony Thompson gene: ACP5 was added gene: ACP5 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 39853520; 38883133; 38567175; 36376765; 32691099; 27718324 Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, MONDO:0011939 Review for gene: ACP5 was set to GREEN Added comment: PMID 27718324, PMID 39853520, PMID 36376765 and PMID 38883133 report 12 individuals from 10 families with biallelic loss-of-function ACP5 variants presenting with Spondyloenchondrodysplasia with immune dysregulation, a multisystem syndrome characterised by childhood‑onset spastic paraparesis, skeletal dysplasia, short stature and autoimmune cytopenias. Sources: Literature |
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