| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Polydactyly v0.266 | HMGB1 | Ain Roesley Phenotypes for gene: HMGB1 were changed from brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 to brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.265 | HMGB1 | Ain Roesley Phenotypes for gene: HMGB1 were changed from Mirror image foot polydactyly to brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.265 | HMGB1 | Ain Roesley Publications for gene: HMGB1 were set to 34159400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.265 | HMGB1 | Ain Roesley Classified gene: HMGB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.265 | HMGB1 | Ain Roesley Gene: hmgb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.264 | HMGB1 |
Ain Roesley edited their review of gene: HMGB1: Added comment: PMID:36755093 4 new families with de novo protein truncating variants. In addition with PMID 34159400, c.556_559delGAAG;p.(Glu186Argfs*42) - 1 family c.551_554delAGAA;p.(Lys184Argfs*44) - 4 families; Changed rating: GREEN; Changed publications: 34159400, 36755093; Changed phenotypes: brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.236 | HMGB1 | Zornitza Stark Marked gene: HMGB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.236 | HMGB1 | Zornitza Stark Gene: hmgb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.236 | HMGB1 | Zornitza Stark Classified gene: HMGB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.236 | HMGB1 | Zornitza Stark Gene: hmgb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.235 | HMGB1 |
Ain Roesley gene: HMGB1 was added gene: HMGB1 was added to Polydactyly. Sources: Literature Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HMGB1 were set to 34159400 Phenotypes for gene: HMGB1 were set to Mirror image foot polydactyly Penetrance for gene: HMGB1 were set to unknown Review for gene: HMGB1 was set to RED Added comment: 1x de novo fs in a proband with severe mirror image foot polydactyly. No functional studies done but cited Itou 2011 - mouse and zebrafish studies demonstrated the role of HMGB1 in regulating digit number during embryonic limb development Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||