| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.5463 | SSR3 | Zornitza Stark Marked gene: SSR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5463 | SSR3 | Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5463 | SSR3 | Zornitza Stark Classified gene: SSR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5463 | SSR3 | Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5462 | SSR3 |
Zornitza Stark gene: SSR3 was added gene: SSR3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SSR3 were set to 30945312 Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation Review for gene: SSR3 was set to AMBER Added comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence. Sources: Literature |
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