Severe Combined Immunodeficiency (absent T present B cells)

Gene: PTPRC

Green List (high evidence)

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

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

History Filter Activity

30 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptprc has been classified as Green List (High Evidence).

30 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTPRC were changed from to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532

30 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTPRC were set to

30 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PTPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTPRC was added gene: PTPRC was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PTPRC was set to Unknown