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| Arthrogryposis v0.22 | BICD2 | Zornitza Stark Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.22 | BICD2 | Zornitza Stark Added comment: Comment when marking as ready: Arthrogryposis is a feature in some affected individuals. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.22 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.22 | BICD2 | Zornitza Stark Classified gene: BICD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.22 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.21 | BICD2 |
Elena Savva gene: BICD2 was added gene: BICD2 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BICD2 were set to PMID: 28635954; 27751653 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291 Penetrance for gene: BICD2 were set to Incomplete Review for gene: BICD2 was set to GREEN Added comment: OMIM describes an established pathogenic variant (p.T703M) as inherited from an unaffected parent - has 2 hets in gnomAD Requested for entry to this gene list following VPC - found several papers noting patient w/ Arthrogryposis Sources: Literature |
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