TFR2

transferrin receptor 2
OMIM: 604720, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber TFR2 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 3 604250

Green TFR2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.59

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

Green TFR2 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.28

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

Red TFR2 in Hypogonadotropic hypogonadism idiopathic


Version 1.10
Signed off v.1.4 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Haemochromatosis type 3 (OMIM 604250)

Green TFR2 in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Wessex and West Midlands GLH
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 3 604250

No list TFR2 in Monogenic diabetes


Version 2.3
Signed off v.2.2 on 25 Feb 2020

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

Green TFR2 in Iron metabolism disorders


Version 1.4
Signed off v.1.2 on 3 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 604250 HEMOCHROMATOSIS, TYPE 3
  • 604250 Hemochromatosis, type 3
  • HFE3

Green TFR2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.431

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary haemochromatosis Type 3 (Disorder of iron metabolism)
  • Hemochromatosis, type 3 604250

Green TFR2 in Inborn errors of metabolism


Version 2.33
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hemochromatosis, type 3 604250
    • Hereditary haemochromatosis Type 3 (Disorder of iron metabolism)

    Red TFR2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green TFR2 in Severe Paediatric Disorders


    Version 1.19

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hemochromatosis, type 3, 604250