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| Growth failure v0.29 | FANCB |
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, and early-onset bone marrow failure. Poor growth is a key feature.; to: Well established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure. Poor growth is a key feature. |
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| Growth failure v0.28 | FANCB | Zornitza Stark Marked gene: FANCB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.28 | FANCB | Zornitza Stark Gene: fancb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.28 | FANCB | Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anemia, complementation group B, 300514; Falcon anemia; VACTERL Association with Hydrocephalus; Fanconi Anaemia; Fanconi Anemia Type B; 300514 Fanconi anemia, complementation group B; Fanconi anemia; Fanconi Anemia, X-Linked to Fanconi anaemia, complementation group B, MIM# 300514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.27 | FANCB | Zornitza Stark Publications for gene: FANCB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.26 | FANCB | Zornitza Stark Mode of inheritance for gene: FANCB was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.25 | FANCB |
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, and early-onset bone marrow failure.; to: Well established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure. Poor growth is a key feature. |
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| Growth failure v0.0 | FANCB |
Zornitza Stark gene: FANCB was added gene: FANCB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514; Falcon anemia; VACTERL Association with Hydrocephalus; Fanconi Anaemia; Fanconi Anemia Type B; 300514 Fanconi anemia, complementation group B; Fanconi anemia; Fanconi Anemia, X-Linked |
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