| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Additional findings_Adult v1.113 | SLX4 | Zornitza Stark Marked gene: SLX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.113 | SLX4 | Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.113 | SLX4 | Zornitza Stark Classified gene: SLX4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.113 | SLX4 | Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.112 | SLX4 |
Zornitza Stark gene: SLX4 was added gene: SLX4 was added to Additional findings_Adult. Sources: Expert Review Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLX4 were set to Fanconi anaemia, complementation group P, MIM# 613951 Review for gene: SLX4 was set to GREEN Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, SLX4 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||