Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Additional findings_Adult v1.83 | FANCA | Zornitza Stark Marked gene: FANCA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v1.83 | FANCA | Zornitza Stark Gene: fanca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v1.83 | FANCA | Zornitza Stark Classified gene: FANCA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v1.83 | FANCA | Zornitza Stark Gene: fanca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v1.82 | FANCA |
Zornitza Stark gene: FANCA was added gene: FANCA was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCA were set to Fanconi anaemia, complementation group A, MIM# 227650 Review for gene: FANCA was set to GREEN Added comment: MODERATE actionability by ClinGen. In the absence of congenital anomalies, presentation can be with BMF in adulthood and surveillance by haematologist is warranted to optimise timing of BMT. Sources: Expert list |