| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v1.114 | POLE | Tommy Li Added phenotypes IMAGE-I syndrome, MIM# 618336 for gene: POLE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.81 | POLE | Zornitza Stark Marked gene: POLE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.81 | POLE | Zornitza Stark Gene: pole has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.81 | POLE | Zornitza Stark Classified gene: POLE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.81 | POLE | Zornitza Stark Gene: pole has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.80 | POLE |
Zornitza Stark gene: POLE was added gene: POLE was added to BabyScreen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: POLE. Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLE were set to IMAGE-I syndrome, MIM# 618336 Review for gene: POLE was set to GREEN Added comment: Established gene-disease association. Multi-system disorder comprising GH and adrenal hypoplasia. Treatment: hydrocortisone non-genetic confirmatory testing: hormone levels Sources: Expert list |
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