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| BabyScreen+ newborn screening v1.114 | DOCK2 |
Tommy Li Added phenotypes Immunodeficiency 40 MIM# 616433 for gene: DOCK2 Publications for gene DOCK2 were updated from 26083206; 29204803; 33928462; 30826364; 30838481; 11518968 to 30838481; 29204803; 30826364; 11518968; 33928462; 26083206 |
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| BabyScreen+ newborn screening v0.1944 | DOCK2 | Zornitza Stark Marked gene: DOCK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1944 | DOCK2 | Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1944 | DOCK2 |
Zornitza Stark Tag treatable tag was added to gene: DOCK2. Tag immunological tag was added to gene: DOCK2. |
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| BabyScreen+ newborn screening v0.1944 | DOCK2 | Zornitza Stark Classified gene: DOCK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1944 | DOCK2 | Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1943 | DOCK2 |
Zornitza Stark gene: DOCK2 was added gene: DOCK2 was added to Baby Screen+ newborn screening. Sources: Expert Review Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK2 were set to 26083206; 29204803; 33928462; 30826364; 30838481; 11518968 Phenotypes for gene: DOCK2 were set to Immunodeficiency 40 MIM# 616433 Review for gene: DOCK2 was set to GREEN Added comment: 13 unrelated individuals; two mouse models; 10 biallelic mutations found (6 led to premature termination of the protein & 4 missense mutations affecting conserved residues) All patients presented with combined immunodeficiency in infancy (defective IFN-mediated immunity), early onset of invasive bacterial and viral infections, functional defects in T/B/NK cells and elevated IgM (normal IgG/IgA). Treatment: bone marrow transplant. Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile Sources: Expert Review |
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