Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Combined Immunodeficiency v1.118 | TFRC | Zornitza Stark Phenotypes for gene: TFRC were changed from Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia to Immunodeficiency 46, MIM# 616740; TFRC-related combined immunodeficiency MONDO:0014760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.117 | TFRC | Zornitza Stark Publications for gene: TFRC were set to 26642240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.116 | TFRC | Zornitza Stark Classified gene: TFRC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.116 | TFRC | Zornitza Stark Gene: tfrc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.115 | TFRC | Sangavi Sivagnanasundram reviewed gene: TFRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 32851577, 38270687; Phenotypes: TFRC-related combined immunodeficiency MONDO:0014760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.56 | TFRC | Zornitza Stark Marked gene: TFRC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.56 | TFRC | Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.56 | TFRC | Zornitza Stark Classified gene: TFRC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.56 | TFRC | Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.55 | TFRC | Zornitza Stark Classified gene: TFRC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.55 | TFRC | Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.54 | TFRC |
Zornitza Stark gene: TFRC was added gene: TFRC was added to Combined Immunodeficiency. Sources: Expert list 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 Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia Review for gene: TFRC was set to AMBER Added comment: Single family and functional data. Sources: Expert list |