Laterality disorders and isomerism
Gene: FANCB
FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
2 reviews
Zornitza Stark (Australian Genomics)
Not a laterality/heterotaxy disorder.Created: 2 Jun 2020, 8:37 a.m. | Last Modified: 2 Jun 2020, 8:37 a.m.
Panel Version: 1.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group B, MIM# 300514
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: FANCB; Suggested initial gene rating: Amber; Evidence for inclusion: Possible VACTERL-H association, which can include isomerism (but this could be just ZIC3-associated); Evidence for exclusion: Unclear link to gene in any literature; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Details
- Sources
-
- Expert Review Amber
- NHS GMS
- OMIM
- 300515
- Clinvar variants
- Variants in FANCB
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Hydrocephalus
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
History Filter Activity
5 Dec 2018, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to FANCB. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
5 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: FANCB was added gene: FANCB was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: FANCB was set to