| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe Combined Immunodeficiency (absent T present B cells) v0.40 | IL7R | Zornitza Stark Marked gene: IL7R as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.40 | IL7R | Zornitza Stark Gene: il7r has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.40 | IL7R | Zornitza Stark Phenotypes for gene: IL7R were changed from to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; low T-cell numbers; normal-high B and NK-cell numbers; fever; rash; failure to thrive; recurrent respiratory and gastric infections; Hepatomegaly; Splenomegaly; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; decreased immunoglobulins | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.39 | IL7R | Zornitza Stark Publications for gene: IL7R were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.38 | IL7R | Zornitza Stark Mode of inheritance for gene: IL7R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.28 | IL7R | Danielle Ariti reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843216, 19890784, 26123418, 11023514, 7964471; Phenotypes: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971, low T-cell numbers, normal-high B and NK-cell numbers, fever, rash, failure to thrive, recurrent respiratory and gastric infections, Hepatomegaly, Splenomegaly, diarrhoea, lymphadenopathy, pneumonitis, Pancytopaenia, decreased immunoglobulins; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.0 | IL7R |
Zornitza Stark gene: IL7R was added gene: IL7R was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IL7R was set to Unknown |
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