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Severe Paediatric Disorders

Gene: SH3PXD2B

Green List (high evidence)

SH3PXD2B (SH3 and PX domains 2B)
EnsemblGeneIds (GRCh38): ENSG00000174705
EnsemblGeneIds (GRCh37): ENSG00000174705
OMIM: 613293, Gene2Phenotype
SH3PXD2B is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SH3PXD2B; Recommended initial gene rating: Green List (high evidence); Phenotypes: Frank-ter Haar syndrome, 249420 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Frank-ter Haar syndrome, 249420
OMIM
613293
Clinvar variants
Variants in SH3PXD2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SH3PXD2B were updated from to 30847515