| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.106 | FANCI | Zornitza Stark Marked gene: FANCI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.106 | FANCI | Zornitza Stark Gene: fanci has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.106 | FANCI | Zornitza Stark Phenotypes for gene: FANCI were changed from Fanconi anemia, complementation group I, MIM# 609053 to Fanconi anaemia, complementation group I, MIM# 609053 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.105 | FANCI | Zornitza Stark Classified gene: FANCI as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.105 | FANCI | Zornitza Stark Gene: fanci has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.104 | FANCI |
Zornitza Stark gene: FANCI was added gene: FANCI was added to Additional findings_Adult. Sources: Expert Review Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, MIM# 609053 Review for gene: FANCI was set to GREEN Added comment: Other FA genes assessed as MODERATE actionability by ClinGen; FANCI included for completeness. In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT. Sources: Expert Review |
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