Neonatal cholestasis
Gene: TFR2Comment when marking as ready: Based on reviewer's commentsCreated: 21 Aug 2018, 9:17 a.m.
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.
This panel has been subjected to extensive internal and external review.
Gene: tfr2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: TFR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: tfr2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250
Publications for gene: TFR2 were set to 10802645; 11313241; 12130528; 29985876
TFR2 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
TFR2 was created by Ellen McDonagh