| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.3564 | HDAC6 | Bryony Thompson Marked gene: HDAC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3564 | HDAC6 | Bryony Thompson Gene: hdac6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3564 | HDAC6 |
Bryony Thompson gene: HDAC6 was added gene: HDAC6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HDAC6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HDAC6 were set to 20181727 Phenotypes for gene: HDAC6 were set to chondrodysplasia MONDO:0022723 Review for gene: HDAC6 was set to RED Added comment: PMID 20181727 reports eight individuals from a single unrelated family with X-linked dominant chondrodysplasia caused by a 3′‑UTR HDAC6 variant (c.*281A>T) that abolishes miR‑433 regulation, leading to HDAC6 overexpression; severe skeletal anomalies are seen in males and a milder asymmetric short‑limb phenotype in heterozygous females. Functional assays in MG63 cells and fetal tissues confirm loss of miRNA‑mediated repression. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||