Skeletal dysplasia
Gene: SH3PXD2B
Filamin group and related disorder gp of SD, at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome 249420
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: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 12:23 p.m.
Tier 3Created: 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
Added phenotypes Frank-ter Haar syndrome 249420 for gene: SH3PXD2B
Source NHS GMS was added to SH3PXD2B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for SH3PXD2B were set to Frank-ter Haar syndrome 249420
Mode of inheritance for SH3PXD2B was changed to BIALLELIC, autosomal or pseudoautosomal
SH3PXD2B was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SH3PXD2B was created by sleigh
SH3PXD2B was added to Unexplained skeletal dysplasiapanel. Sources: