TF

transferrin
OMIM: 190000, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TF in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atransferrinaemia MIM# 209300
  • iron overload
  • hypochromic anaemia
  • low serum transferrin
  • Hemosiderosis of the heart and/or liver
  • Congestive heart failure

Green TF in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Atransferrinemia, 209300 (3)

Green TF in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review 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

Green TF in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 209300 Atransferrinemia
  • 209300 Atransferrinemia, Hypoferritinaemia

Green TF in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Atransferrinaemia MIM#209300

Green TF in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Atransferrinemia MIM#209300
Tags
  • treatable
  • haematological

Green TF in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Atransferrinaemia MIM#209300