| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.179 | PIBF1 | Bryony Thompson Marked gene: PIBF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.179 | PIBF1 | Bryony Thompson Gene: pibf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.179 | PIBF1 | Bryony Thompson Classified gene: PIBF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.179 | PIBF1 | Bryony Thompson Gene: pibf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.178 | PIBF1 |
Bryony Thompson gene: PIBF1 was added gene: PIBF1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 41230208; 40448720; 34592808; 33004012; 30858804; 29695797; 26167768 Phenotypes for gene: PIBF1 were set to Joubert syndrome, MONDO:0018772 Review for gene: PIBF1 was set to GREEN Added comment: Joubert syndrome, a recessive ciliopathy characterised by cerebellar vermis hypoplasia, molar tooth sign, developmental delay, hypotonia and prominent ataxia. All families harbour biallelic loss‑of‑function PIBF1 variants (nonsense, frameshift, in‑frame insertion or missense with demonstrated loss of function). Functional studies show that wild‑type PIBF1 rescues ciliogenesis in knock‑down cells and that patient‑derived alleles fail to rescue ciliation in Xenopus, supporting a loss‑of‑function disease mechanism. Sources: Literature |
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