Fetal anomalies
Gene: SH3PXD2B

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.

DDG2P rating in original PAGE list: Confirmed for FRANK-TER HAAR SYNDROME
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.161

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

FRANK-TER HAAR SYNDROME

OMIM

613293

Clinvar variants

Variants in SH3PXD2B

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SH3PXD2B was added gene: SH3PXD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME

Fetal anomalies Gene: SH3PXD2B