1. Panels
  2. Combined Immunodeficiency
  3. TFRC
STRs in panel
Prev Next
Regions in panel
Prev Next

Combined Immunodeficiency

Gene: TFRC

Amber List (moderate evidence)
TFRC (transferrin receptor)
EnsemblGeneIds (GRCh38): ENSG00000072274
EnsemblGeneIds (GRCh37): ENSG00000072274
OMIM: 190010, Gene2Phenotype
TFRC is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family and functional data.
Sources: Expert list
Created: 3 Apr 2020, 7:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia

Publications

Created: 3 Apr 2020, 7:02 a.m.

Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 46, MIM# 616740
  • T cells: normal number, poor proliferation
  • B cells: normal number, low memory B cells
  • recurrent infections, neutorpaenia
  • thrombocytopaenia
OMIM
190010
Clinvar variants
Variants in TFRC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Apr 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: TFRC was added gene: TFRC was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFRC were set to 26642240 Phenotypes for gene: TFRC were set to Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia Review for gene: TFRC was set to AMBER