| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.113 | MICU1 | Bryony Thompson Marked gene: MICU1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.113 | MICU1 | Bryony Thompson Gene: micu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.113 | MICU1 | Bryony Thompson Classified gene: MICU1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.113 | MICU1 | Bryony Thompson Gene: micu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.112 | MICU1 |
Bryony Thompson gene: MICU1 was added gene: MICU1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MICU1 were set to 40434710; 38380193; 33969448; 33428302 Phenotypes for gene: MICU1 were set to proximal myopathy with extrapyramidal signs, MONDO:0014300 Review for gene: MICU1 was set to GREEN Added comment: Four families with biallelic loss-of-function MICU1 variants are reported across four studies. Affected individuals present with childhood‑onset proximal muscle weakness, markedly elevated CK, developmental delay and extrapyramidal manifestations including ataxia, matching the phenotype of proximal myopathy with extrapyramidal signs. Sources: Literature |
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