| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Growth failure v0.41 | FANCL | Zornitza Stark Marked gene: FANCL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.41 | FANCL | Zornitza Stark Gene: fancl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.41 | FANCL | Zornitza Stark Phenotypes for gene: FANCL were changed from Fanconi anemia; 614083Fanconi anemia, complementation group L; Fanconi anemia, complementation group L, 614083; Fanconi Anemia to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.40 | FANCL | Zornitza Stark Publications for gene: FANCL were set to 25754594; 12724401; 19405097; 12973351; 16474160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.39 | FANCL | Zornitza Stark changed review comment from: Established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.0 | FANCL |
Zornitza Stark gene: FANCL was added gene: FANCL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCL were set to 25754594; 12724401; 19405097; 12973351; 16474160 Phenotypes for gene: FANCL were set to Fanconi anemia; 614083Fanconi anemia, complementation group L; Fanconi anemia, complementation group L, 614083; Fanconi Anemia |
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