| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genomic newborn screening: BabyScreen+ v0.1911 | CAV1 | Zornitza Stark Marked gene: CAV1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1911 | CAV1 | Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1911 | CAV1 | Zornitza Stark Classified gene: CAV1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1911 | CAV1 | Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1910 | CAV1 |
Zornitza Stark Tag treatable tag was added to gene: CAV1. Tag metabolic tag was added to gene: CAV1. |
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| Genomic newborn screening: BabyScreen+ v0.1910 | CAV1 |
Zornitza Stark gene: CAV1 was added gene: CAV1 was added to gNBS. Sources: Expert list Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAV1 were set to 29704234 Phenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, MIM# 612526 Review for gene: CAV1 was set to GREEN Added comment: Established gene-disease association. Bi-allelic disease is more severe. Onset is congenital. Treatment: metreleptin Non-genetic confirmatory testing: leptin levels Sources: Expert list |
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