BCORL1 was first reported in relation to the X-linked recessive neurodevelopmental disorder Shukla-Vernon syndrome in 2019 (Shukla et al., PMID: 30941876). Eight missense variants that have been reported in 13 probands in 5 publications (PMIDs: 30941876, 24121876, 23849776, 33810051, 34400773) are included in this curation. The mechanism of pathogenicity is unknown. Affected individuals present with global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and attention deficit hyperactivity disorder. Dysmorphic features are common and may include tall forehead, downslanting palpebral fissures, and tapering fingers. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier mothers may have mild manifestations, including learning disabilities.
In summary, there is limited evidence to support the relationship between BCORL1 and Shukla-Vernon syndrome. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This classification was approved by the ClinGen Intellectual Disability and Autism GCEP on the meeting date March 5th, 2024 (SOP Version 10).
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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