Neonatal cholestasis
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
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Based on reviewer's commentsCreated: 21 Aug 2018, 9:17 a.m.
Eleanor Williams (Genomics England Curator)
Comment on mode of inheritance: Added MOI from OMIM for Hemochromatosis, type 3Created: 15 Aug 2018, 10:03 p.m.
Comment on list classification: Rating as Amber as evidence this gene is associated with Hemochromatosis, type 3 affecting the liver, but the majority of cases are in patients with diagnosis as adultsCreated: 15 Aug 2018, 10:02 p.m.
Comment on phenotypes: Added OMIM phenotypeCreated: 15 Aug 2018, 10 p.m.
In OMIM TFR2 is associated with Hemochromatosis, type 3. The clinical features of this include liver Cirrhosis
and Fibrosis. OMIM reports that Camaschella et al. (2000) (PMID: 10802645) identified a homozygous Y250X substitution in the TFR2 gene in 2 Sicilian families segregating HFE3, one consanguineous. Patients from these two families and two more Italian families with hemochromatosis type 3 and TFR2 variants are reported in Roetta et al. (2001) (PMID:11313241). However all patients were adult at the age of diagnosis and therefore not relevant to this neonatal panel. Mattman et al 2002 (PMID: 12130528) report another individual from Portugal with an additional Q690P mutation in TFR2. He presented at 29 years of age. Khayat et al 2018 (PMID: 29985876) report a case of a 2.5 year old Mexican boy with Alagille Syndrome (likely caused by a JAG1 variant) and Type 3 Hereditary Hemochromatosis With TFR2 Mutation (Ser470Ile). Nothing found in Gene2Phenotype.Created: 15 Aug 2018, 9:58 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hemochromatosis, type 3 604250
- OMIM
- 604720
- Clinvar variants
- Variants in TFR2
- Penetrance
- None
- Publications
- 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
3 Sep 2018, Gel status: 2
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
21 Aug 2018, Gel status: 2
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: tfr2 has been classified as Amber List (Moderate Evidence).
15 Aug 2018, Gel status: 2
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: TFR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
15 Aug 2018, Gel status: 2
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: tfr2 has been classified as Amber List (Moderate Evidence).
15 Aug 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250
15 Aug 2018, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: TFR2 were set to 10802645; 11313241; 12130528; 29985876
21 Jun 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TFR2 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)TFR2 was created by Ellen McDonagh