Combined Immunodeficiency

Gene: TRAC

Amber List (moderate evidence)

TRAC (T-cell receptor alpha constant)
EnsemblGeneIds (GRCh38): ENSG00000277734
EnsemblGeneIds (GRCh37): ENSG00000229164
OMIM: 186880, Gene2Phenotype
TRAC is in 5 panels

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

I don't know

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 10 Jan 2020, 3:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Tags
founder
OMIM
186880
Clinvar variants
Variants in TRAC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Aug 2022, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: TRAC.

18 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: trac has been classified as Amber List (Moderate Evidence).

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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