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Red cell 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: 8 Sep 2021, 11:35 p.m. | Last Modified: 8 Sep 2021, 11:35 p.m.
Panel Version: 0.75

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: 8 Sep 2021, 11:35 p.m.
Last Modified: 8 Sep 2021, 11:35 p.m.
Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
Phenotypes
  • Atransferrinaemia MIM# 209300
  • iron overload
  • hypochromic anaemia
  • low serum transferrin
  • Hemosiderosis of the heart and/or liver
  • Congestive heart failure
OMIM
190000
Clinvar variants
Variants in TF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tf has been classified as Green List (High Evidence).

9 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TF were changed from Congenital hypotransferrinemia; Atransferrinemia, 209300; 209300 Congenital hypotransferrinemia to Atransferrinaemia MIM# 209300; iron overload; hypochromic anaemia; low serum transferrin; Hemosiderosis of the heart and/or liver; Congestive heart failure

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Congenital hypotransferrinemia; Atransferrinemia, 209300; 209300 Congenital hypotransferrinemia for gene: TF Publications for gene TF were updated from 11110675; 1862777; 8187613; 3472216; 10660486 to 8187613; 1862777; 10660486; 3472216; 11110675

15 Sep 2020, 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 Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TF were set to 11110675; 1862777; 8187613; 3472216; 10660486 Phenotypes for gene: TF were set to 209300 Congenital hypotransferrinemia; Congenital hypotransferrinemia; Atransferrinemia, 209300