| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genomic newborn screening: BabyScreen+ v0.2052 | RNPC3 | Zornitza Stark Marked gene: RNPC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2052 | RNPC3 | Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2052 | RNPC3 | Zornitza Stark Classified gene: RNPC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2052 | RNPC3 | Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2051 | RNPC3 |
Zornitza Stark gene: RNPC3 was added gene: RNPC3 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: RNPC3. Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182 Phenotypes for gene: RNPC3 were set to Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160 Review for gene: RNPC3 was set to GREEN Added comment: Three unrelated individuals reported with combined and isolated pituitary hormone deficiencies, including GH and TSH. Onset: congenital. Treatment: GH, thyroxine. Non-genetic confirmatory testing: hormone levels. Sources: Expert list |
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