| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v1.6 | XDP | Bryony Thompson Marked STR: XDP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.6 | XDP | Bryony Thompson Str: xdp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.6 | XDP | Bryony Thompson Classified STR: XDP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.6 | XDP | Bryony Thompson Str: xdp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.5 | XDP |
Bryony Thompson STR: XDP was added STR: XDP was added to Dystonia - isolated/combined. Sources: Expert list founder tags were added to STR: XDP. Mode of inheritance for STR: XDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: XDP were set to 17273961; 29229810 Phenotypes for STR: XDP were set to Dystonia-Parkinsonism, X-linked MIM#314250 Review for STR: XDP was set to GREEN STR: XDP was marked as clinically relevant Added comment: Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression. Sources: Expert list |
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