| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Craniosynostosis v1.15 | SIX1 | Zornitza Stark Marked gene: SIX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.15 | SIX1 | Zornitza Stark Gene: six1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.15 | SIX1 | Zornitza Stark Classified gene: SIX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.15 | SIX1 | Zornitza Stark Gene: six1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.14 | SIX1 |
Zornitza Stark gene: SIX1 was added gene: SIX1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIX1 were set to 33436522 Phenotypes for gene: SIX1 were set to Sagittal synostosis; Multi-suture synostosis Review for gene: SIX1 was set to GREEN Added comment: Calpena et al 2021 (PMID:33436522) identified 7 families in which the proband had craniosynostosis (affecting at least the sagittal suture in all cases) and a heterozygous SIX1 variant (4 nonsense + 3 missense in highly conserved residues of SIX domain or homeodomain). SIX1 mutations (mostly missense) were previously described in branchio-otic syndrome (BOS). Patients and carriers in the extended family variably had features of BOS (including branchial cysts, ear tags or pits, and hearing loss), but there were also several non-penetrant heterozygous individuals, indicating variation in expressivity. SIX1 analysis is therefore particularly indicated in individuals with either (1) additional BOS features or (2) sagittal+bilambdoid synostosis. Sources: Literature |
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