| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.225 | TOGARAM1 | Bryony Thompson Marked gene: TOGARAM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.225 | TOGARAM1 | Bryony Thompson Gene: togaram1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.225 | TOGARAM1 | Bryony Thompson Classified gene: TOGARAM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.225 | TOGARAM1 | Bryony Thompson Gene: togaram1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.224 | TOGARAM1 |
Bryony Thompson gene: TOGARAM1 was added gene: TOGARAM1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32453716 Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MONDO:0030933 Review for gene: TOGARAM1 was set to GREEN Added comment: PMID 32453716 reports 5 individuals from 5 families with biallelic loss-of-function TOGARAM1 variants presenting with Joubert syndrome, a neurodevelopmental ciliopathy characterised by ataxia, hypotonia and the molar‑tooth sign. Functional studies demonstrate loss of ARMC9‑TOGARAM1 interaction, altered ciliary length in overexpression assays and short cilia with reduced tubulin PTMs in patient fibroblasts, as well as recapitulation of ciliopathy phenotypes in zebrafish mutants. Sources: Literature |
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