Activity
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16 actions
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| Combined Immunodeficiency v1.73 | IL7 | Zornitza Stark Marked gene: IL7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.73 | IL7 | Zornitza Stark Gene: il7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.73 | IL7 | Zornitza Stark Phenotypes for gene: IL7 were changed from Combined Immune deficiency to Combined immunodeficiency, MONDO:0015131, IL7-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.72 | IL7 | Zornitza Stark Classified gene: IL7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.72 | IL7 | Zornitza Stark Gene: il7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.71 | IL7 | Zornitza Stark reviewed gene: IL7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined immunodeficiency, MONDO:0015131, IL7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.71 | IL7 |
Peter McNaughton gene: IL7 was added gene: IL7 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL7 were set to PMID: 39352394 Phenotypes for gene: IL7 were set to Combined Immune deficiency Review for gene: IL7 was set to GREEN Added comment: 6 patients from 4 kindreds with combined immune deficiency and recurrent infections. Extensive immunophenotyping revealing IL7 dependent and independent development of T cells. Sources: Literature |
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| Combined Immunodeficiency v1.71 | IL7R | Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers. to severe combined immunodeficiency 104 MIM#608971 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.262 | IL7R | Zornitza Stark Marked gene: IL7R as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.262 | IL7R | Zornitza Stark Gene: il7r has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.262 | 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; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.261 | IL7R | Zornitza Stark Publications for gene: IL7R were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.260 | IL7R | Zornitza Stark Mode of inheritance for gene: IL7R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.251 | IL7R |
Danielle Ariti changed review comment from: 6 unrelated individuals with 9 unique variants (missense, splicing, nonsense, and frameshift) have been reported). Two IL7R null mice models demonstrating a phenotype consistent with T cell Lymphopaenia Typical patient immunological phenotype consisted of Low B-cells, decreased immunoglobulins with normal-high B/NK cell numbers.; to: 6 unrelated individuals with 9 unique variants (missense, splicing, nonsense, and frameshift) have been reported. Two IL7R null mice models demonstrating a phenotype consistent with T cell Lymphopaenia Typical patient immunological phenotype consisted of Low B-cells, decreased immunoglobulins with normal-high B/NK cell numbers. |
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| Combined Immunodeficiency v0.251 | 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, fever, rash, failure to thrive, recurrent respiratory and gastric infections, diarrhoea, lymphadenopathy, pneumonitis, Pancytopaenia, low T-cell numbers, decreased immunoglobulins, normal-high B/NK-cell numbers.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.0 | IL7R |
Zornitza Stark gene: IL7R was added gene: IL7R was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_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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