| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.137 | HMGB1 | Zornitza Stark Marked gene: HMGB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.137 | HMGB1 | Zornitza Stark Gene: hmgb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.137 | HMGB1 | Zornitza Stark Classified gene: HMGB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.137 | HMGB1 | Zornitza Stark Gene: hmgb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.136 | HMGB1 |
Zornitza Stark gene: HMGB1 was added gene: HMGB1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMGB1 were set to 36755093; 34159400 Phenotypes for gene: HMGB1 were set to brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 Review for gene: HMGB1 was set to GREEN Added comment: PMID 34159400 reports 1 individual with a de novo heterozygous frameshift HMGB1 variant causing severe mirror‑image foot polydactyly, a monogenic autosomal‑dominant condition. PMID 36755093 reports 5 individuals from 5 families with de novo heterozygous frameshift HMGB1 variants causing Brachyphalangy, Polydactyly and Tibial Aplasia syndrome (BPTAS). Sources: Literature |
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