Growth failure
Gene: FANCB
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.Created: 21 Apr 2021, 1:47 a.m. | Last Modified: 6 Aug 2021, 3:13 a.m.
Panel Version: 0.29
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Fanconi anemia, complementation group B, MIM# 300514
Publications
Gene: fancb has been classified as Green List (High Evidence).
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
Publications for gene: FANCB were set to
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
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