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  3. PTCRA
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Combined Immunodeficiency

Gene: PTCRA

Green List (high evidence)
PTCRA (pre T-cell antigen receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000171611
EnsemblGeneIds (GRCh37): ENSG00000171611
OMIM: 606817, Gene2Phenotype
PTCRA is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 cases with low T cells. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features.
Created: 11 Nov 2024, 7:28 a.m. | Last Modified: 11 Nov 2024, 7:28 a.m.
Panel Version: 1.108

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 126, MIM# 620931

Publications

Created: 11 Nov 2024, 7:28 a.m.
Last Modified: 11 Nov 2024, 7:28 a.m.
Panel version: 1.108

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 126, MIM# 620931
OMIM
606817
Clinvar variants
Variants in PTCRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PTCRA was added gene: PTCRA was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: PTCRA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCRA were set to 38422122 Phenotypes for gene: PTCRA were set to Immunodeficiency 126, MIM# 620931