Coarse facial features including Coffin-Siris-like disorders

Gene: SH3PXD2B

Red List (low evidence)

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Unlikely to present with coarse facial features
Created: 24 Nov 2016, 9:42 a.m.

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-Ter Haar

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Frank-Ter Haar syndrome 249420
OMIM
613293
Clinvar variants
Variants in SH3PXD2B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

7 Feb 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

SH3PXD2B was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature

7 Feb 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

SH3PXD2B was created by alicegardham