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Growth failure v0.32 | FANCD2 | Zornitza Stark Marked gene: FANCD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.32 | FANCD2 | Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.32 | FANCD2 | Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anemia; 227646 Fanconi anemia, complementation group D2; Fanconi anemia, complementation group D2, 227646; Fanconi Anemia to Fanconi anaemia, complementation group D2, MIM# 227646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.31 | FANCD2 |
Zornitza Stark changed review comment from: Well 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: Well 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. |
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Growth failure v0.0 | FANCD2 |
Zornitza Stark gene: FANCD2 was added gene: FANCD2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCD2 were set to 11239454 Phenotypes for gene: FANCD2 were set to Fanconi anemia; 227646 Fanconi anemia, complementation group D2; Fanconi anemia, complementation group D2, 227646; Fanconi Anemia |