Severe Combined Immunodeficiency (absent T present B cells)
Gene: PTPRC

PTPRC (protein tyrosine phosphatase, receptor type C)
EnsemblGeneIds (GRCh38): ENSG00000081237
EnsemblGeneIds (GRCh37): ENSG00000081237
OMIM: 151460, Gene2Phenotype
PTPRC is in 4 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

4 individuals reported with bi-allelic (deletion, splice site, missense and nonsense(UPD-1 patient)) variants; one mouse model

All patients presented with T-, B+, NK+ SCID and early-onset (2-3 months) failure to thrive and recurrent infections (otitis media, pneumonia). Other features displayed include thrush, diarrhoea, fevers, hepatosplenomegaly and lymphadenopathy.
Created: 30 Sep 2021, 1:35 a.m. | Last Modified: 30 Sep 2021, 1:35 a.m.

Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532

Publications

Created: 30 Sep 2021, 1:35 a.m.
Last Modified: 30 Sep 2021, 1:35 a.m.
Panel version: 0.34

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
Hepatitis C virus, susceptibility to MIM# 609532

OMIM

151460

Clinvar variants

Variants in PTPRC

Penetrance

None

Publications

Panels with this gene