| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.117 | MLC1 | Bryony Thompson Marked gene: MLC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.117 | MLC1 | Bryony Thompson Gene: mlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.117 | MLC1 | Bryony Thompson Classified gene: MLC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.117 | MLC1 | Bryony Thompson Gene: mlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.116 | MLC1 |
Bryony Thompson gene: MLC1 was added gene: MLC1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 41483250; 35468122; 34918859; 31942423 Phenotypes for gene: MLC1 were set to megalencephalic leukoencephalopathy with subcortical cysts 1, MONDO:0024555 Review for gene: MLC1 was set to GREEN Added comment: Four studies together describe 35 individuals from three independent consanguineous families carrying biallelic loss‑of‑function MLC1 variants (homozygous missense p.Ser93Leu, splice‑site c.768+2T>C, and missense p.Cys85Trp). Segregation is confirmed in the families reported by PMID 34918859 and PMID 31942423; the PMID 35468122 variant is recurrent in a distinct South‑American cohort, satisfying the qualifying‑variant gate. The multicentre Italian cohort (PMID 41483250) adds 27 further patients, confirming the classic macrocephaly, developmental delay, cerebellar ataxia, spasticity and subcortical cysts phenotype. Sources: Literature |
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