| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v0.138 | BTD | Zornitza Stark Marked gene: BTD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.138 | BTD | Zornitza Stark Gene: btd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.138 | BTD | Zornitza Stark Classified gene: BTD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.138 | BTD | Zornitza Stark Gene: btd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.137 | BTD |
Zornitza Stark gene: BTD was added gene: BTD was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 34012068 Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM# 253260 Review for gene: BTD was set to GREEN Added comment: Included in ACMG SF V3.0, clinical presentation can be in adulthood, features can be non-specific, highly effective treatment available. Sources: Expert list |
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