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| Severe Combined Immunodeficiency (absent T absent B cells) v1.12 | 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; Absent/reduced T and B cells; decreased Ig levels; Normal NK cell number; increased risk of graft rejection possibly due to activated NK cells; radiation sensitivity; failure to thrive; recurrent respiratory infections; diarrhoea; fever; hypogammmaglobulinaemia 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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| Severe Combined Immunodeficiency (absent T absent B cells) v0.30 | DCLRE1C | Zornitza Stark Marked gene: DCLRE1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.30 | DCLRE1C | Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.30 | DCLRE1C | Zornitza Stark Phenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency, Athabascan type MIM# 602450; Absent/reduced T and B cells; decreased Ig levels; Normal NK cell number; increased risk of graft rejection possibly due to activated NK cells; radiation sensitivity; failure to thrive; recurrent respiratory infections; diarrhoea; fever; hypogammmaglobulinaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.29 | DCLRE1C | Zornitza Stark Publications for gene: DCLRE1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.28 | DCLRE1C | Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.27 | DCLRE1C | Danielle Ariti reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19953608, 15699179, 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Absent/reduced T and B cells, decreased Ig levels, Normal NK cell number, increased risk of graft rejection possibly due to activated NK cells, radiation sensitivity, failure to thrive, recurrent respiratory infections, diarrhoea, fever, hypogammmaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | DCLRE1C |
Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C was added to Severe combined immunodeficiency (absent T, absent B cells)_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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