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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: SH3BP4

Red List (low evidence)

SH3BP4 (SH3 domain binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000130147
EnsemblGeneIds (GRCh37): ENSG00000130147
OMIM: 605611, Gene2Phenotype
SH3BP4 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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
Created: 23 Jul 2023, 6:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

craniosynostosis, MONDO:0015469



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Literature
  • craniosynostosis, MONDO:0015469
Clinvar variants
Variants in SH3BP4
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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