| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.9196 | HSCB | Zornitza Stark Marked gene: HSCB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9196 | HSCB | Zornitza Stark Gene: hscb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9196 | HSCB | Zornitza Stark Classified gene: HSCB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9196 | HSCB | Zornitza Stark Gene: hscb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9195 | HSCB |
Zornitza Stark gene: HSCB was added gene: HSCB was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: HSCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSCB were set to 32634119 Phenotypes for gene: HSCB were set to Anaemia, sideroblastic, 5, MIM# 619523 Review for gene: HSCB was set to AMBER Added comment: Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model. Sources: Expert list |
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