| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v3.16 | SLC16A2 | Bryony Thompson Marked gene: SLC16A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.16 | SLC16A2 | Bryony Thompson Gene: slc16a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.16 | SLC16A2 | Bryony Thompson Classified gene: SLC16A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.16 | SLC16A2 | Bryony Thompson Gene: slc16a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.15 | SLC16A2 |
Bryony Thompson gene: SLC16A2 was added gene: SLC16A2 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLC16A2 were set to 41144879; 40088079 Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, MONDO:0010354 Review for gene: SLC16A2 was set to GREEN Added comment: PMID 40088079 reports 11 male patients from 11 families with hemizygous SLC16A2 loss-of-function variants; five independent families carry qualifying frameshift or splice null alleles causing Allan‑Herndon‑Dudley syndrome with childhood parkinsonism (hypokinesia, rigidity, dystonia, autonomic dysfunction). CSF homovanillic acid is markedly reduced and six treated families improve with levodopa/carbidopa. PMID 41144879 describes ten additional male patients with genetically confirmed SLC16A2 deficiency and infantile parkinsonism but provides no variant details, preventing independent family counting. The childhood parkinsonism phenotype aligns with the Early‑onset Parkinson disease panel's focus on abnormal extrapyramidal motor function. Sources: Literature |
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