| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.241 | ZBTB11 | Bryony Thompson Marked gene: ZBTB11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.241 | ZBTB11 | Bryony Thompson Gene: zbtb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.241 | ZBTB11 | Bryony Thompson Classified gene: ZBTB11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.241 | ZBTB11 | Bryony Thompson Gene: zbtb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.240 | ZBTB11 |
Bryony Thompson gene: ZBTB11 was added gene: ZBTB11 was added to Ataxia. Sources: Literature Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB11 were set to 38899514 Phenotypes for gene: ZBTB11 were set to intellectual developmental disorder, autosomal recessive 69, MONDO:0032715 Review for gene: ZBTB11 was set to GREEN Added comment: PMID 38899514 reports 29 individuals from 17 families (16 independent) with biallelic ZBTB11 variants presenting with neurodevelopmental delay, intellectual disability and progressive complex movement disorders, including ataxia in 12 of 20 examined patients. Sources: Literature |
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