Craniosynostosis

Gene: SH3PXD2B

Red List (low evidence)

SH3PXD2B (SH3 and PX domains 2B)
EnsemblGeneIds (GRCh38): ENSG00000174705
EnsemblGeneIds (GRCh37): ENSG00000174705
OMIM: 613293, Gene2Phenotype
SH3PXD2B is in 9 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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 Wilkie
Created: 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

Eleanor Williams (Genomics England Curator)

I don't know

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: amber
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

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.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Craniosynostosis appears to be a rare complication of Frank-ter Haar syndrome. Other features of this syndrome should be present
Created: 15 Sep 2015, 7:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Borrone dermato-cardio-skeletal syndrome
  • Frank-ter-har 249420
  • 249420
OMIM
613293
Clinvar variants
Variants in SH3PXD2B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Borrone dermato-cardio-skeletal syndrome; Frank-ter-har 249420 for gene: SH3PXD2B

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SH3PXD2B.

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for SH3PXD2B were set to 249420

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for SH3PXD2B were set to 23140272

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for SH3PXD2B was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

SH3PXD2B was added to Craniosynostosis syndromespanel. Sources: Expert list