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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 |