| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Growth failure v0.260 | BRCA1 | Zornitza Stark Marked gene: BRCA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.260 | BRCA1 | Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.260 | BRCA1 | Zornitza Stark Classified gene: BRCA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.260 | BRCA1 | Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.259 | BRCA1 |
Zornitza Stark gene: BRCA1 was added gene: BRCA1 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865 Phenotypes for gene: BRCA1 were set to Fanconi anaemia, complementation group S, MIM# 617883 Review for gene: BRCA1 was set to GREEN Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype. Short stature is a feature. Sources: Expert list |
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