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| BabyScreen+ newborn screening v1.114 | CDCA7 | Tommy Li Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 for gene: CDCA7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1928 | CDCA7 | Zornitza Stark Marked gene: CDCA7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1928 | CDCA7 | Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1928 | CDCA7 | Zornitza Stark Classified gene: CDCA7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1928 | CDCA7 | Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1927 | CDCA7 |
Zornitza Stark Tag treatable tag was added to gene: CDCA7. Tag immunological tag was added to gene: CDCA7. |
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| BabyScreen+ newborn screening v0.1927 | CDCA7 |
Zornitza Stark gene: CDCA7 was added gene: CDCA7 was added to gNBS. Sources: Expert Review Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDCA7 were set to 26216346 Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 Review for gene: CDCA7 was set to GREEN Added comment: Congenital onset, severe disorder. At least 4 unrelated families reported. Treatment: replacement immunoglobulins, bone marrow transplant Non-genetic confirmatory testing: immunoglobulin levels, cytogenetic analysis for centromeric instability, DNA methylation studies Sources: Expert Review |
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