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Primary immunodeficiency

Gene: TFRC

Amber List (moderate evidence)

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

4 reviews

Eleanor Williams (Genomics England Curator)

The following PubMed IDs were added to entity TFRC: 26642240. These publications have been associated with OMIM phenotype MIM#616740, which is listed for this entity, by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Created: 15 Apr 2020, 3:42 p.m. | Last Modified: 15 Apr 2020, 3:42 p.m.
Panel Version: 2.81

Zornitza Stark (Australian Genomics)

I don't know

Single family and functional data.
Created: 11 Apr 2020, 11:06 a.m. | Last Modified: 11 Apr 2020, 11:06 a.m.
Panel Version: 2.51

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

Louise Daugherty (Genomics England Curator)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TFRC .PanelApp HGNC gene symbol check: TFRC . IUIS Disease: TFRC deficiency . IUIS Inheritance: AR .T cells: Decreased, .B cells: Nl number, low memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections, neutropenia, thrombocytopenia. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency
Created: 6 Jul 2018, 12:24 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Amber
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, neutropenia, thrombocytopenia
  • Recurrent infections, thrombocytopenia
  • Immunodeficiencies affecting cellular and humoral immunity
  • Immunodeficiency 46, 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

13 Oct 2020, Gel status: 2

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Source Other was added to TFRC. Publications for gene TFRC were updated from 32048120; 32086639; 26642240 to 32086639; 26642240; 32048120

15 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

15 Apr 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TFRC were changed from Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity to Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity; Immunodeficiency 46, 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia

15 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TFRC were set to 32048120; 32086639

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to TFRC. Mode of inheritance for gene TFRC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity for gene: TFRC Publications for gene TFRC were updated from to 32048120; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TFRC were set to Recurrent infections, neutropenia, thrombocytopenia, Immunodeficiencies affecting cellular and humoral immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TFRC was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

TFRC was created by Louise Daugherty