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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.157 | SH3BP4 |
Achchuthan Shanmugasundram gene: SH3BP4 was added gene: SH3BP4 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SH3BP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3BP4 were set to 35080095; 36980886 Phenotypes for gene: SH3BP4 were set to craniosynostosis, MONDO:0015469 Review for gene: SH3BP4 was set to RED Added comment: A patient was described with a recessive variant in SH3BP4 (c.128C>A; p.Pro43His) in the Norwegian craniosynostosis cohort. The variant has a CADD score of 33 and a gnomAD allele frequency of 9.6 x 10-5 (no homozygotes are reported in gnomAD). The patient presented with a Chiari I malformation, exophthalmos, eating difficulties as an infant, microcephaly, recurrent infections, dysmorphic features, Kabuki-like syndrome, and pan-synostosis. This patient also harbours two variants in KMT2D: c.11599C>A; p.Gln3867Lys (CADD = 22) and c.7182C>A; p.Ser2394Arg (CADD = 20); gnomAD frequency 1.2 x 10-5 and absent, respectively (PMID:35080095). Sources: Literature |
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