Cytopenias and congenital anaemias
Gene: TF

TF (transferrin)
EnsemblGeneIds (GRCh38): ENSG00000091513
EnsemblGeneIds (GRCh37): ENSG00000091513
OMIM: 190000, Gene2Phenotype
TF is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on publications: PMID:11110675 provides a summary review of all cases for Atransferrinemia caused by variants in TF gene found in the literature including their own study on an America short (9 patients with disorder, 7 unrelated families). PMID:3472216 evidence for mouse model.
Created: 23 Feb 2017, 2:21 p.m.

Created: 23 Feb 2017, 1:50 p.m.

Panel version: 0.42

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Literature
UKGTN

Phenotypes

Atransferrinemia, 209300
Congenital hypotransferrinemia

OMIM

190000

Clinvar variants

Variants in TF

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

24 Feb 2017, Gel status: 4