Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SH3PXD2B
PMID:23140272 reported a family of three siblings with homozygous variants in SH3PXD2B and two of them presented with craniosynostosis.Created: 12 May 2023, 7:35 p.m. | Last Modified: 12 May 2023, 7:35 p.m.
Panel Version: 4.92
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome, OMIM:249420
Publications
• 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/genes14030615Created: 2 Mar 2023, 1:34 p.m. | Last Modified: 2 Mar 2023, 1:35 p.m.
Panel Version: 3.4
Brachycephaly; can have delayed closure of anterior fontanel. Wilson et al 2014 report a boy with MSS. Bendon et al 2012 report a family with sagittal CSS in 2 of 3 sibs. ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter-har 249420, Borrone dermato-cardio-skeletal syndrome
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SH3PXD2B; Suggested initial gene rating: amberCreated: 5 Mar 2019, 11:21 a.m.
Comment on list classification: Clear but rare association. Clearly pathogenic variants would be worthy of clinical feedback in the context of other supportive features.Created: 1 Feb 2016, 11:30 a.m.
Craniosynostosis appears to be a rare complication of Frank-ter Haar syndrome. Other features of this syndrome should be presentCreated: 15 Sep 2015, 7:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome
Publications
Added phenotypes Borrone dermato-cardio-skeletal syndrome; Frank-ter-har 249420 for gene: SH3PXD2B
Source NHS GMS was added to SH3PXD2B.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for SH3PXD2B were set to 249420
Publications for SH3PXD2B were set to 23140272
Mode of inheritance for SH3PXD2B was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SH3PXD2B was added to Craniosynostosis syndromespanel. Sources: Expert list