Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Red cell disorders v1.11 C1GALT1C1 Ain Roesley Marked gene: C1GALT1C1 as ready
Red cell disorders v1.11 C1GALT1C1 Ain Roesley Gene: c1galt1c1 has been classified as Green List (High Evidence).
Red cell disorders v1.11 C1GALT1C1 Ain Roesley Phenotypes for gene: C1GALT1C1 were changed from to Tn polyagglutination syndrome, somatic MIM#300622
Red cell disorders v1.10 C1GALT1C1 Ain Roesley Classified gene: C1GALT1C1 as Green List (high evidence)
Red cell disorders v1.10 C1GALT1C1 Ain Roesley Gene: c1galt1c1 has been classified as Green List (High Evidence).
Red cell disorders v1.9 C1GALT1C1 Ain Roesley gene: C1GALT1C1 was added
gene: C1GALT1C1 was added to Red cell disorders. Sources: Literature
somatic tags were added to gene: C1GALT1C1.
Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: C1GALT1C1 were set to 18537974; 16251947
Review for gene: C1GALT1C1 was set to GREEN
gene: C1GALT1C1 was marked as current diagnostic
Added comment: Previously known as COSMC
>3 unrelated. In 1 female, she was heterozygous for the variant in whole blood but homozygous in erythroblast culture
Sources: Literature