SARS1 was first reported in relation to autosomal recessive neurodevelopmental disorder with microcephaly, ataxia, and seizures in 2017 (Musante et al., PMID: 28236339). Five missense variants, reported in 6 probands in 4 publications (PMIDs: 28236339, 34570399, 36004946, 35790048) are included in this curation. Variants in this gene have also been reported segregating with disease (PMIDs: 28236339, 34570399). The mechanism of pathogenicity is reported to be loss of function.
In summary, there is limited evidence to support the relationship between SARS1 and autosomal recessive neurodevelopmental disorder with microcephaly, ataxia, and seizures. 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 Gene Curation Expert Panel on July 18, 2023 (SOP Version 9).
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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