| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.99 | FANCD2 | Zornitza Stark Marked gene: FANCD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.99 | FANCD2 | Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.99 | FANCD2 | Zornitza Stark Classified gene: FANCD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.99 | FANCD2 | Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.98 | FANCD2 |
Zornitza Stark gene: FANCD2 was added gene: FANCD2 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi anaemia, complementation group D2, MIM# 227646 Review for gene: FANCD2 was set to GREEN Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCD2 included for completeness. In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by a haematologist is warranted to optimise timing of BMT. Sources: Expert list |
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