Combined Immunodeficiency
Gene: TRAC
Single variant reported to date in 6 patients; 2 unrelated children from consanguineous families of Pakistani descent (PMID: 21206088); 1 non-consanguineous family from North-west India (PMID: 33909184) and 1 consanguineous parents of East Indian (https://lymphosign.com/doi/10.14785/lymphosign-2022-0001)
Also note annotation issues in certain variant curation and annotation tools.Created: 18 Aug 2022, 6:15 a.m. | Last Modified: 18 Aug 2022, 6:15 a.m.
Panel Version: 1.25
Sources: Expert listCreated: 10 Jan 2020, 3:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Publications
Tag founder tag was added to gene: TRAC.
Gene: trac has been classified as Amber List (Moderate Evidence).
Gene: trac has been classified as Green List (High Evidence).
Gene: trac has been classified as Green List (High Evidence).
gene: TRAC was added gene: TRAC was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAC were set to 21206088 Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Review for gene: TRAC was set to GREEN