Skeletal dysplasia
Gene: SH3PXD2B

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)

Green List (high evidence)

Filamin group and related disorder gp of SD, at least 3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome 249420

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

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; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 12 Jul 2016, 12:23 p.m.

Created: 12 Jul 2016, 12:23 p.m.

Panel version: 0.588

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome 249420

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Frank-ter Haar syndrome 249420

OMIM

613293

Clinvar variants

Variants in SH3PXD2B

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Frank-ter Haar syndrome 249420 for gene: SH3PXD2B

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SH3PXD2B. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4