Submission Details

The SYT1 gene was first reported in relation to autosomal dominant SYT1-associated neurodevelopmental disorder in 2018 (30107533: Baker et al. 2018). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least five unique missense variants have been reported in a total of 11 cases, all from a single study (30107533: Baker et al. 2018). All the reported variants were de novo. The mechanism for disease is unknown. This gene-disease relationship is supported by in vitro functional assays and expression data (22031440: Kang et al. 2011; 30107533: Baker et al. 2018). The biochemical function of the protein is well-described, but the mechanism of disease is not entirely clear. In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged.

PubMed IDs:

30107533 22031440

Assertion Criteria:

Click here to view assertion criteria

https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf

Submitter Submitted Date:

10/15/2020

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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