PanelApp
  1. Genes and Genomic Entities
  2. TFR2

TFR2

transferrin receptor 2
OMIM: 604720, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red TFR2 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

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

    Green TFR2 in Mendeliome


    Version 1.3795

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

    Green TFR2 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.152

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

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

    Green TFR2 in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.166

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

    Red TFR2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green TFR2 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.52

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

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

    Red TFR2 in Prepair 1000+


    Level 2: Screening
    Version 2.15

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

    Red TFR2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

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

    Green TFR2 in Hypogonadotropic hypogonadism

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.74

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