SCID
Gene: PTPRC

PTPRC (protein tyrosine phosphatase, receptor type C)
EnsemblGeneIds (GRCh38): ENSG00000081237
EnsemblGeneIds (GRCh37): ENSG00000081237
OMIM: 151460, Gene2Phenotype
PTPRC is in 2 panels

6 reviews

Christopher Duncan (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber due to agreement from 5 reviewers.
Created: 20 May 2016, 2:12 p.m.

Created: 20 May 2016, 2:12 p.m.

Panel version: 0.26

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen

Phenotypes

{Hepatitic C virus, susceptibility to}, 609532
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
{Hepatitic C virus, susceptibility to}, 609532
T-B+ SCID

OMIM

151460

Clinvar variants

Variants in PTPRC

Penetrance

Complete

Publications

Panels with this gene