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| BabyScreen+ newborn screening v1.114 | CD3G | Tommy Li Added phenotypes Immunodeficiency 17; CD3 gamma deficient MIM# 615607 for gene: CD3G | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1919 | CD3G | Zornitza Stark Marked gene: CD3G as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1919 | CD3G | Zornitza Stark Gene: cd3g has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1919 | CD3G | Zornitza Stark Classified gene: CD3G as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1919 | CD3G | Zornitza Stark Gene: cd3g has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1918 | CD3G | Zornitza Stark edited their review of gene: CD3G: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1918 | CD3G |
Zornitza Stark Tag treatable tag was added to gene: CD3G. Tag immunological tag was added to gene: CD3G. |
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| BabyScreen+ newborn screening v0.1918 | CD3G |
Zornitza Stark gene: CD3G was added gene: CD3G was added to gNBS. Sources: Expert list Mode of inheritance for gene: CD3G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD3G were set to 31921117 Phenotypes for gene: CD3G were set to Immunodeficiency 17; CD3 gamma deficient MIM# 615607 Added comment: 10 affected individuals from 5 unrelated families; homozygous and compound heterozygous variants (splicing, missense and small deletion variants) identified resulting in premature stop codons and truncated protein; multiple mouse models. All individuals displayed immune deficiency and autoimmunity of variable severity. Some individuals presented at birth with failure to thrive due to lethal SCID features. The most common immunologic profile includes partial T lymphocytopenia and low CD3, with normal B cells, NK cells, and immunoglobulins. Congenital onset. Treatment: replacement immunoglobulin Non-genetic confirmatory testing: immunoglobulin levels Sources: Expert list |
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