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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.92 SH3PXD2B Achchuthan Shanmugasundram commented on gene: SH3PXD2B: PMID:23140272 reported a family of three siblings with homozygous variants in SH3PXD2B and two of them presented with craniosynostosis.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.92 SH3PXD2B Achchuthan Shanmugasundram reviewed gene: SH3PXD2B: Rating: RED; Mode of pathogenicity: None; Publications: 23140272; Phenotypes: Frank-ter Haar syndrome, OMIM:249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 SH3PXD2B Rebecca Tooze changed review comment from: • Two heterozygous variants were identified in the Clarke cohort: c.1265T>C; p.(Ile433Thr) and c.2276C>G; p.(Pro759Arg) (Clarke et al., 2018) - see review: doi.org/10.3390/genes14030615; to: • Two heterozygous variants were identified in the Clarke cohort: c.1265T>C; p.(Ile433Thr) and c.2276C>G; p.(Pro759Arg) (Clarke et al., 2018). Other documented cases are homozygous so likely incidental. - see review: doi.org/10.3390/genes14030615
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 SH3PXD2B Rebecca Tooze reviewed gene: SH3PXD2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SH3PXD2B Eleanor Williams Added phenotypes Borrone dermato-cardio-skeletal syndrome; Frank-ter-har 249420 for gene: SH3PXD2B
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 SH3PXD2B Tracy Lester reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 23140272; Phenotypes: Frank-ter-har 249420, Borrone dermato-cardio-skeletal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 SH3PXD2B Eleanor Williams reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 SH3PXD2B Eleanor Williams Source NHS GMS was added to SH3PXD2B.