| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.81 | KATNIP | Bryony Thompson Marked gene: KATNIP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.81 | KATNIP | Bryony Thompson Gene: katnip has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.81 | KATNIP | Bryony Thompson Classified gene: KATNIP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.81 | KATNIP | Bryony Thompson Gene: katnip has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.80 | KATNIP |
Bryony Thompson gene: KATNIP was added gene: KATNIP was added to Ataxia. Sources: Literature Mode of inheritance for gene: KATNIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KATNIP were set to 40621737; 32164589; 32164589; 30982090; 30982090; 27245168; 27245168; 26714646; 26714646 Phenotypes for gene: KATNIP were set to Joubert syndrome, MONDO:0018772 Review for gene: KATNIP was set to GREEN Added comment: Seven families (11 affected individuals) with Joubert syndrome, a neurodevelopmental ciliopathy featuring ataxia, hypotonia, developmental delay and cerebellar vermis hypoplasia, harbour homozygous loss‑of‑function KATNIP variants (c.2674C>T (p.Q892*), c.4420del, c.222_232del, c.3756dupC, R1253Qfs*, M1474Cfs*). Zebrafish morpholino knockdown rescued by wild‑type mRNA provides functional validation, and mouse knockout phenotypes support the loss‑of‑function mechanism. Recessive inheritance is well documented across independent families. Joubert syndrome includes prominent ataxia, making KATNIP relevant to the Ataxia panel. Sources: Literature |
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