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| Arthrogryposis v0.3 | SYNE1 | Zornitza Stark Marked gene: SYNE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.3 | SYNE1 | Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.3 | SYNE1 | Zornitza Stark Classified gene: SYNE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.3 | SYNE1 | Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.2 | SYNE1 |
Zornitza Stark gene: SYNE1 was added gene: SYNE1 was added to Arthrogryposis_VCGS. Sources: Literature Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 27782104 Phenotypes for gene: SYNE1 were set to Distal arthrogryposis Review for gene: SYNE1 was set to GREEN Added comment: Three families reported with bi-allelic distal truncating variants in this gene (KASH domain). This appears to be a specific genotype-phenotype correlation with variants elsewhere in the gene causing different phenotypes. Sources: Literature |
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