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| Combined Immunodeficiency v1.135 | DCLRE1C |
Chirag Patel Source Melbourne Genomics Health Alliance Immunology Flagship was removed from DCLRE1C. Source Victorian Clinical Genetics Services was removed from DCLRE1C. Source Expert list was added to DCLRE1C. Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome MIM# 603554 to Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225 Publications for gene DCLRE1C were changed from 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179 to 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179 |
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| Combined Immunodeficiency v0.355 | DCLRE1C | Zornitza Stark Publications for gene: DCLRE1C were set to 15731174; 19953608; 15699179 12055248; 34220820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.354 | DCLRE1C | Zornitza Stark Marked gene: DCLRE1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.354 | DCLRE1C | Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.354 | DCLRE1C | Zornitza Stark Phenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome MIM# 603554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.353 | DCLRE1C | Zornitza Stark Publications for gene: DCLRE1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.352 | DCLRE1C | Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.345 | DCLRE1C | Danielle Ariti reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15731174, 19953608, 15699179 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.345 | DCLRE1C | Danielle Ariti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.345 | DCLRE1C | Danielle Ariti reviewed gene: DCLRE1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 15731174, 19953608; Phenotypes: Omenn syndrome MIM# 603554, Absent B cells, normal-elevated T-cells, normal-elevated NK cells, severe combined immunodeficiency (SCID), erythrodermia, hepatosplenomegaly, lymphadenopathy, alopecia, radiosensitivity, elevated IgE, elevated eosinophilia, dermatitis, failure to thrive, recurrent respiratory infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.0 | DCLRE1C |
Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C 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: DCLRE1C was set to Unknown |
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