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Metal Metabolism Disorders

Gene: TF

Green List (high evidence)
TF (transferrin)
EnsemblGeneIds (GRCh38): ENSG00000091513
EnsemblGeneIds (GRCh37): ENSG00000091513
OMIM: 190000, Gene2Phenotype
TF is in 7 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

9 patients from 7 unrelated families; bi-allelic (del, missense, nonsense, frameshift) variants; mouse model displaying iron overload similar to that in hemochromatosis

Atransferrinaemia is characterised by iron overload and hypochromic anaemia. Patients present with elevated serum ferritin, exceedingly low serum transferrin and typically Hemosiderosis of the heart and/or liver. Other features include Congestive heart failure.
Created: 9 Sep 2021, 6:15 a.m. | Last Modified: 9 Sep 2021, 6:15 a.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Atransferrinaemia MIM# 209300; iron overload; hypochromic anaemia; low serum transferrin; Hemosiderosis of the heart and/or liver; Congestive heart failure

Publications

Created: 9 Sep 2021, 6:15 a.m.
Last Modified: 9 Sep 2021, 6:15 a.m.
Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 209300 Atransferrinemia
  • 209300 Atransferrinemia, Hypoferritinaemia
OMIM
190000
Clinvar variants
Variants in TF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TF was added gene: TF was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TF were set to 15466165; 11110675 Phenotypes for gene: TF were set to 209300 Atransferrinemia; 209300 Atransferrinemia, Hypoferritinaemia