| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Craniosynostosis v1.53 | BCL11B | Zornitza Stark Marked gene: BCL11B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.53 | BCL11B | Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.53 | BCL11B | Zornitza Stark Phenotypes for gene: BCL11B were changed from Craniosynostosis to Craniosynostosis, MONDO:0015469, BCL11B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.52 | BCL11B | Zornitza Stark Classified gene: BCL11B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.52 | BCL11B | Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.47 | BCL11B |
Calder Hamill gene: BCL11B was added gene: BCL11B was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BCL11B were set to 36980886; 34900871 Phenotypes for gene: BCL11B were set to Craniosynostosis Penetrance for gene: BCL11B were set to Incomplete Review for gene: BCL11B was set to GREEN Added comment: The potential gene disease association between BCL11B and craniosynostosis was a topic in Tooze, R.S.; Calpena, E.; Weber, A.; Wilson, L.C.; Twigg, S.R.F.; Wilkie, A.O.M. Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 2023, 14, 615. https://doi.org/10.3390/ genes14030615 Summary of evidence: >There are seven families with variants in BCL11B and confirmed craniosynostosis >There are two green reviews in UK Panel App >A de novo substitution was described in BCL11B (c.7C>A; p.(Arg3Ser)) - further mouse model data Goos, J.A.C.; Vogel, W.K.; Mlcochova, H.; Millard, C.J.; Esfandiari, E.; Selman, W.H.; Calpena, E.; Koelling, N.; Carpenter, E.L.; Swagemakers, S.M.A.; et al. A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis. Hum. Mol. Genet. 2019, 28, 2501–2513. > a de novo frameshift variant in BCL11B, identified by whole-exome sequencing: c.2346_2361del; p.(Gly783Alafs*24) Zhao, X.; Wu, B.; Chen, H.; Zhang, P.; Qian, Y.; Peng, X.; Dong, X.; Wang, Y.; Li, G.; Dong, C.; et al. Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay. Front. Pediatr. 2022, 10, 982361 > A de novo loss of function variant has been described in a patient with developmental delay and craniosynostosis: c.2439_2452dup; p.(His818Argfs*31) Eto, K.; Machida, O.; Yanagishita, T.; Shimojima Yamamoto, K.; Chiba, K.; Aihara, Y.; Hasegawa, Y.; Nagata, M.; Ishihara, Y.; Miyashita, Y.; et al. Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis. Hum. Genome Var. 2022, 9, 43 The following evidence first noted from review by Helen Lord in UK PanelApp: PMID 34900871 Gaillard et al, 2021, reported 4 patients with BCL11B variants Patient A: c.2000G>A p.(Gly667Glu) het left sided congernital diaphragmatic hernia (CDH) and progressive sagittal synostosis. Maternally inherited. Patient B: c.1744G>A p.(Gly582Ser) het sagittal and bilambdoid synostosis. Paternally inherited. Patient C: c.2018C>G p.(Pro673Arg) het left unicoronal synostosis. Maternally inherited. Patient D: c.1265C>T p.(Pro422Leu) het sagittal synostosis. Maternally inherited. Parentally inherited in some instances suggesting incomplete penetrance Sources: Literature |
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