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Predominantly Antibody Deficiency v0.124 | IRF2BP2 | Zornitza Stark Publications for gene: IRF2BP2 were set to 27016798 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Predominantly Antibody Deficiency v0.123 | IRF2BP2 | Zornitza Stark Classified gene: IRF2BP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Predominantly Antibody Deficiency v0.123 | IRF2BP2 | Zornitza Stark Gene: irf2bp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Predominantly Antibody Deficiency v0.122 | IRF2BP2 | Zornitza Stark edited their review of gene: IRF2BP2: Added comment: Reports of additional patients: 4yo with chronic diarrhea, severe eczema, anemia, failure to thrive, fevers, short stature, recurrent infections, cataracts, hypodontia, hypotrichosis alopecia, hypogammaglobulinemia. The 33-year-old male presented with recurrent respiratory infections since childhood, colitis and RA beginning at age 25 years.; Changed rating: GREEN; Changed publications: 27016798, 32048120, 36193988, 33864888; Changed phenotypes: Immunodeficiency, common variable, 14, MIM# 617765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Predominantly Antibody Deficiency v0.23 | IRF2BP2 | Zornitza Stark Marked gene: IRF2BP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Predominantly Antibody Deficiency v0.23 | IRF2BP2 | Zornitza Stark Gene: irf2bp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Predominantly Antibody Deficiency v0.23 | IRF2BP2 |
Zornitza Stark gene: IRF2BP2 was added gene: IRF2BP2 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF2BP2 were set to 27016798 Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14, MIM# 617765 Review for gene: IRF2BP2 was set to RED Added comment: Single family reported only. Sources: Expert list |