| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.276 | SLC35C1 | Eleanor Williams Classified gene: SLC35C1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.276 | SLC35C1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. It is green on the Congenital disorders of glycosylation panel (panel ID:25, version 1.32). Decision agreed with Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.276 | SLC35C1 | Eleanor Williams Gene: slc35c1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.275 | SLC35C1 |
Eleanor Williams gene: SLC35C1 was added gene: SLC35C1 was added to Skeletal dysplasia. Sources: Other Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35C1 were set to 11326280; 12476046 Phenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation, type IIc 266265; GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Added comment: Adding gene to the panel from suggestion from Rhoda Akilapa. Dwarfism reported Sources: Other |
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