Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: TFR2
TFR2 (transferrin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000106327
EnsemblGeneIds (GRCh37): ENSG00000106327
OMIM: 604720, Gene2Phenotype
TFR2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000106327
EnsemblGeneIds (GRCh37): ENSG00000106327
OMIM: 604720, Gene2Phenotype
TFR2 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 21 Mar 2017, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 3 604250
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hemochromatosis, type 3 604250
- OMIM
- 604720
- Clinvar variants
- Variants in TFR2
- Penetrance
- Complete
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hypogonadotropic hypogonadism (GMS)
- Hypogonadotropic hypogonadism
- Monogenic diabetes
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
- Undiagnosed metabolic disorders
History Filter Activity
21 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)TFR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review
21 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)TFR2 was created by sleigh