Craniosynostosis

Gene: PTPRD

Red List (low evidence)

PTPRD (protein tyrosine phosphatase, receptor type D)
EnsemblGeneIds (GRCh38): ENSG00000153707
EnsemblGeneIds (GRCh37): ENSG00000153707
OMIM: 601598, Gene2Phenotype
PTPRD is in 1 panel

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

One case with CSS reported by Choucair et al 2015 (from Zollino et al) ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

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: PTPRD; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
OMIM
601598
Clinvar variants
Variants in PTPRD
Penetrance
None
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: PTPRD was added gene: PTPRD was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: PTPRD was set to