| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.44 | IL6ST | chirag patel Marked gene: IL6ST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.44 | IL6ST | chirag patel Gene: il6st has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.44 | IL6ST | chirag patel Classified gene: IL6ST as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.44 | IL6ST | chirag patel Gene: il6st has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.43 | IL6ST |
chirag patel gene: IL6ST was added gene: IL6ST was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6ST were set to 40835206; 38133879; 31914175 Phenotypes for gene: IL6ST were set to Stuve-Wiedemann syndrome 2, MONDO:0030756 Review for gene: IL6ST was set to GREEN Added comment: PMID 38133879, PMID 31914175 and PMID 40835206 together report 11 individuals from 7 families with homozygous truncating or splice IL6ST variants presenting with bent long bones, respiratory failure and perinatal lethality. Patient‑derived cells (amniocytes, EBV‑LCLs) lack GP130 surface expression and IL‑6/IL‑11 signalling, rescued by lentiviral WT GP130 (PMID 31914175). HEK293 GP130‑KO cells transfected with mutant constructs fail to signal (PMID 31914175). Sources: Literature |
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