| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Metal Metabolism Disorders v0.45 | TFRC |
Bryony Thompson gene: TFRC was added gene: TFRC was added to Metal Metabolism Disorders. Sources: Expert Review Amber Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFRC were set to 26642240 Phenotypes for gene: TFRC were set to Disorders of iron metabolism; TFRC-related combined immunodeficiency MONDO:0014760 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.23 | TF | Danielle Ariti reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 11110675, 3472216; Phenotypes: Atransferrinaemia MIM# 209300, iron overload, hypochromic anaemia, low serum transferrin, Hemosiderosis of the heart and/or liver, Congestive heart failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.0 | TFR2 |
Zornitza Stark gene: TFR2 was added gene: TFR2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFR2 were set to 11313241; 10802645 Phenotypes for gene: TFR2 were set to 604250 Hemochromatosis, type 3; HFE3; 604250 HEMOCHROMATOSIS, TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.0 | TF |
Zornitza Stark gene: TF was added gene: TF was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TF were set to 15466165; 11110675 Phenotypes for gene: TF were set to 209300 Atransferrinemia; 209300 Atransferrinemia, Hypoferritinaemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||