TFR2:Ensemblv115

transferrin receptor 2
OMIM: 604720, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red TFR2 in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Haemochromatosis, type 3 (MIM#604250)

Green TFR2 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 3 604250

Green TFR2 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Haemochromatosis, type 3 (MIM#604250)

Green TFR2 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
  • NHS Genomic Medicine Service
Phenotypes
  • 604250 Hemochromatosis, type 3
  • HFE3
  • 604250 HEMOCHROMATOSIS, TYPE 3

Red TFR2 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Haemochromatosis, type 3, MIM#604250

Red TFR2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hemochromatosis type 3