| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.117 | ZBTB26 | Chirag Patel Marked gene: ZBTB26 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.117 | ZBTB26 | Chirag Patel Gene: zbtb26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.117 | ZBTB26 | Chirag Patel Classified gene: ZBTB26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.117 | ZBTB26 | Chirag Patel Gene: zbtb26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.116 | ZBTB26 |
Chirag Patel gene: ZBTB26 was added gene: ZBTB26 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: ZBTB26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZBTB26 were set to 34946811 Phenotypes for gene: ZBTB26 were set to Congenital hypothyroidism MONDO:0018612 Review for gene: ZBTB26 was set to GREEN Added comment: PMID 34946811 reports 3 individuals from 3 unrelated families with heterozygous ZBTB26 variants (2 x missense and 1 x splice‑proximal) presenting with congenital primary hypothyroidism. De novo status confirmed for 1 patient but parental status unavailable for 2 patients. Xenopus loss‑of‑function studies recapitulated the phenotype and were rescued by wild‑type mRNA, supporting a loss‑of‑function mechanism. Sources: Literature |
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