Laterality disorders and isomerismGene: FANCB
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
Fanconi anemia, complementation group B, MIM# 300514
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 given
Created: 5 Dec 2018, 12:52 p.m.
Source Expert Review Amber was added to FANCB. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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