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Growth failure

Gene: FANCB

Green List (high evidence)

FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group B, MIM# 300514
OMIM
300515
Clinvar variants
Variants in FANCB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fancb has been classified as Green List (High Evidence).

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FANCB were set to

6 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jul 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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