| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.1974 | HELLS | Zornitza Stark Marked gene: HELLS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1974 | HELLS | Zornitza Stark Gene: hells has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1974 | HELLS | Zornitza Stark Classified gene: HELLS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1974 | HELLS | Zornitza Stark Gene: hells has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1973 | HELLS |
Zornitza Stark Tag treatable tag was added to gene: HELLS. Tag immunological tag was added to gene: HELLS. |
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| BabyScreen+ newborn screening v0.1973 | HELLS |
Zornitza Stark gene: HELLS was added gene: HELLS was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911 Review for gene: HELLS was set to GREEN Added comment: Congenital onset. Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable. At least 4 unrelated families reported. Treatment: bone marrow transplant. Sources: Expert list |
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