| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.87 | BRIP1 | Zornitza Stark Marked gene: BRIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.87 | BRIP1 | Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.87 | BRIP1 | Zornitza Stark Classified gene: BRIP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.87 | BRIP1 | Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.86 | BRIP1 |
Zornitza Stark gene: BRIP1 was added gene: BRIP1 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM# 609054 Review for gene: BRIP1 was set to GREEN Added comment: MODERATE actionability by ClinGen. In the absence of congenital anomalies, presentation can be in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT. Sources: Expert list |
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