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Mackenzie's Mission_Reproductive Carrier Screening

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

1 review

Sarah Righetti (University of New South Wales)

I don't know

Two unrelated individuals from two consanguinous families of Pakistani origin with same homozygous truncating variant
Created: 16 Oct 2020, 4:12 a.m. | Last Modified: 16 Oct 2020, 4:12 a.m.
Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 7, TCR-alpha/beta deficient

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
OMIM
186880
Clinvar variants
Variants in TRAC
Penetrance
None
Panels with this gene

History Filter Activity

16 Oct 2020, 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).

16 Oct 2020, 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).

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAC was added gene: TRAC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)