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| BabyScreen+ newborn screening v1.114 | CD27 |
Tommy Li Added phenotypes CD27-deficiency MIM# 615122 for gene: CD27 Publications for gene CD27 were updated from 22197273; 22801960; 22365582; 25843314; 11062504 to 22197273; 25843314; 22801960; 22365582; 11062504 |
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| BabyScreen+ newborn screening v0.1917 | CD27 | Zornitza Stark Marked gene: CD27 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1917 | CD27 | Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1917 | CD27 | Zornitza Stark Classified gene: CD27 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1917 | CD27 | Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1916 | CD27 |
Zornitza Stark Tag treatable tag was added to gene: CD27. Tag immunological tag was added to gene: CD27. |
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| BabyScreen+ newborn screening v0.1916 | CD27 |
Zornitza Stark gene: CD27 was added gene: CD27 was added to gNBS. Sources: Expert list Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD27 were set to 22197273; 22801960; 22365582; 25843314; 11062504 Phenotypes for gene: CD27 were set to CD27-deficiency MIM# 615122 Review for gene: CD27 was set to GREEN Added comment: 17 affected individuals from 9 unrelated families; homozygous (missense) and compound heterozygous (missense/ nonsense) variants identified in CD27; one mouse model. Affected individuals present with varied phenotypes (even within the same families); most commonly with lymphadenopathy, fever, hepatosplenomegaly, EBV-related infections, and immunodeficiency associated with hypogammaglobulinaemia. However, some CD27-deficient individuals are asymptomatic or display borderline-low hypogammaglobulinaemia. Treatment: replacement immunoglobulin treatment, rituximab, Bone marrow transplant. Non-genetic confirmatory testing: immunoglobulin levels Sources: Expert list |
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