| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.47 | KIAA0825 | chirag patel Marked gene: KIAA0825 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.47 | KIAA0825 | chirag patel Gene: kiaa0825 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.47 | KIAA0825 | chirag patel Classified gene: KIAA0825 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.47 | KIAA0825 | chirag patel Gene: kiaa0825 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.46 | KIAA0825 |
chirag patel gene: KIAA0825 was added gene: KIAA0825 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0825 were set to 41010063; 37107627; 35886013; 32147526; 30982135 Phenotypes for gene: KIAA0825 were set to Postaxial polydactyly type A, MONDO:0019673 Review for gene: KIAA0825 was set to GREEN Added comment: PMID 30982135 reports 6 individuals from 2 families, PMID 32147526 reports 2 individuals from 1 family, PMID 35886013 reports a prenatally detected case (1 individual, 1 family), PMID 37107627 reports 2 individuals from 1 family, and PMID 41010063 reports 10 individuals from 4 families, totalling 21 patients from 9 families (8 independent) with autosomal recessive postaxial polydactyly type A. Mouse knockout shows reduced bone mineral density (PMID 30982135, PMID 41010063); minigene splice assays demonstrate loss‑of‑function for splice variants (PMID 35886013); protein structural modelling predicts destabilisation for missense variants (PMID 32147526, PMID 37107627, PMID 41010063). Sources: Literature |
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