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| Ataxia v2.21 | ALG6 | Sangavi Sivagnanasundram Classified gene: ALG6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.21 | ALG6 | Sangavi Sivagnanasundram Gene: alg6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.18 | ALG6 |
Sangavi Sivagnanasundram gene: ALG6 was added gene: ALG6 was added to Ataxia. Sources: Literature Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG6 were set to 27287710 Phenotypes for gene: ALG6 were set to ALG6-congenital disorder of glycosylation 1C, MONDO:0011291 Review for gene: ALG6 was set to GREEN Added comment: Multiple individuals reported with ataxia as a presenting phenotype. Note: two of the reported variants have a high FAF for an AR gene c.257+5G>A - FAF 0.1133% in gnomAD v4.1 c.391T>C p.Tyr131His - FAF 3.787% in gnomAD v4.1. This is a known polymorphism in ALG6. Sources: Literature |
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