| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.75 | IQSEC2 | Bryony Thompson Marked gene: IQSEC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.75 | IQSEC2 | Bryony Thompson Gene: iqsec2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.75 | IQSEC2 | Bryony Thompson Classified gene: IQSEC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.75 | IQSEC2 | Bryony Thompson Gene: iqsec2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.74 | IQSEC2 |
Bryony Thompson gene: IQSEC2 was added gene: IQSEC2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: IQSEC2 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: IQSEC2 were set to 30666632 Phenotypes for gene: IQSEC2 were set to intellectual disability, X-linked 1, MONDO:0010656 Review for gene: IQSEC2 was set to GREEN Added comment: PMID 30666632 reports 7/9 individuals with X‑linked IQSEC2 variants, including de novo loss‑of‑function frameshift and nonsense mutations, with features of gait ataxia. Sources: Literature |
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