| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.185 | PMM2 | Bryony Thompson Marked gene: PMM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.185 | PMM2 | Bryony Thompson Gene: pmm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.185 | PMM2 | Bryony Thompson Classified gene: PMM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.185 | PMM2 | Bryony Thompson Gene: pmm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.184 | PMM2 |
Bryony Thompson gene: PMM2 was added gene: PMM2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 33407696; 29470411; 28954837 Phenotypes for gene: PMM2 were set to PMM2-congenital disorder of glycosylation, MONDO:0008907 Review for gene: PMM2 was set to GREEN Added comment: PMM2‑CDG, an autosomal recessive disorder characterised by cerebellar ataxia, axial hypotonia, intellectual disability and multisystem involvement. Sources: Literature |
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