| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.492 | BCLAF3_FRAXG_CCG | Bryony Thompson Marked STR: BCLAF3_FRAXG_CCG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.492 | BCLAF3_FRAXG_CCG | Bryony Thompson Str: bclaf3_fraxg_ccg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.492 | BCLAF3_FRAXG_CCG | Bryony Thompson Classified STR: BCLAF3_FRAXG_CCG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.492 | BCLAF3_FRAXG_CCG | Bryony Thompson Str: bclaf3_fraxg_ccg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.491 | BCLAF3_FRAXG_CCG |
Bryony Thompson STR: BCLAF3_FRAXG_CCG was added STR: BCLAF3_FRAXG_CCG was added to Mendeliome. Sources: Literature Mode of inheritance for STR: BCLAF3_FRAXG_CCG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: BCLAF3_FRAXG_CCG were set to 42482100 Phenotypes for STR: BCLAF3_FRAXG_CCG were set to Neurodevelopmental disorder, MONDO:0700092 Review for STR: BCLAF3_FRAXG_CCG was set to GREEN Added comment: PMID 42482100 reports five affected males with X‑linked hypermethylated CCG repeat expansions in the 5′UTR of BCLAF3, causing transcriptional silencing (loss‑of‑function). Affected individuals present with intellectual disability, epilepsy and autism. Patient‑derived fibroblasts show loss of BCLAF3 RNA and protein and DNA‑methylation arrays confirm promoter hypermethylation. One of the individuals had Williams syndrome and one of the individuals had fragile X, but more severe phenotypes than expected. Based on LRS across all the individuals, the suggested threshold for hypermethylation is somewhere between 117-172 CCG repeats, but a greater number of individuals with intermediate-sized expansions are required to define a more precise cutoff. Sources: Literature |
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