Activity
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5 actions
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Combined Immunodeficiency v1.98 | RECQL4 | Bryony Thompson Marked gene: RECQL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.98 | RECQL4 | Bryony Thompson Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.98 | RECQL4 | Bryony Thompson Classified gene: RECQL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.98 | RECQL4 | Bryony Thompson Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.97 | RECQL4 |
Bryony Thompson gene: RECQL4 was added gene: RECQL4 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 21143835; 26064716 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome MONDO:0010002 Review for gene: RECQL4 was set to GREEN gene: RECQL4 was marked as current diagnostic Added comment: Immunodeficiency can be a feature of RTS, but is not always present. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features. Sources: Expert list |