Submission Details

The HIVEP2 gene was first reported in relation to autosomal dominant HIVEP2-related intellectual disability in 2012 (23020937: Rauch et al. 2012). At least six unique variants have been reported in three papers, all of which are de novo, loss of function variants (four null, and two frameshift variants) (23020937: Rauch et al. 2012; 26153216: Srivastava et al. 2016; 27003583: Steinfeld et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and experimental data. More evidence is available in the literature, but the maximum score for genetic evidence experimental evidence (12 pts.) has been reached. This gene-disease relationship is supported by a homozygous knockout mouse model which exhibited anxiety, increased stress, cognitive impairment, hyperactivity and other brain anomalies; and studies showing interaction with, and expression in the developing brain and co-localisation with, SEF2 (now TCF4), a gene associated with intellectual disability. In summary, there is strong evidence to support the relationship between HIVEP2 and HIVEP2-related intellectual disability (autosomal dominant). Additional reports in humans are needed to reach a definitive classification

PubMed IDs:

23020937 26153216 27003583 16836985 23389689 10207097

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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