FANCB was selected for curation by the ClinGen Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) because it appeared on 5 different clinical genetic testing panels for intellectual disability and/or autism per a query of Genetic Testing Registry data in November 2019. However, the group did not identify any evidence of FANCB variants being observed in individuals with intellectual disability and/or autism. Variants in FANCB have been observed in individuals with Fanconi anemia complementation group B in OMIM (MIM: 300514) (PMIDs: 32106311, 28623394, 29193904) and VACTERL with hydrocephalus in Orphanet (ORPHA:3412) (PMIDs:21910217, 16679491). Cases reported with VACTERL and hydrocephalus had neurodevelopmental complications secondary to the hydrocephalus. The evidence supporting/refuting the relationship between FANCB and these other disorders may be evaluated by other ClinGen GCEPs in the future. In summary, there is no concrete evidence available in the literature regarding a potential relationship between variants in FANCB and X-linked complex neurodevelopmental disorder. This curation was approved by the ClinGen Intellectual Disability and Autism GCEP on 4/9/21 (SOP Version 8).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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