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| Skeletal dysplasia v1.107 | PRDM1 | chirag patel Classified gene: PRDM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.107 | PRDM1 | chirag patel Gene: prdm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.106 | PRDM1 | chirag patel Marked gene: PRDM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.106 | PRDM1 | chirag patel Gene: prdm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.106 | PRDM1 |
chirag patel gene: PRDM1 was added gene: PRDM1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PRDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM1 were set to 38456586; 37083955 Phenotypes for gene: PRDM1 were set to Split hand-foot malformation MONDO:0016576, PRDM1-related Review for gene: PRDM1 was set to GREEN Added comment: PMID 38456586 (and PMID 37083955) report 3 families with split hand/foot malformation (SHFM) caused by heterozygous PRDM1 variants. The frameshift variant (c.712_713insT) segregated in a multigenerational family (3 affected individuals) with variable penetrance (2 unaffected individuals). The 2 missense variants (p.T524R and p.T819A) were de novo (but the p.T819A variant exceeds population‑frequency thresholds). Zebrafish rescue assays showing loss‑of‑function, as wild‑type human PRDM1 rescues fin defects, whereas each mutant mRNA fails to rescue. Sources: Literature |
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