Submission Details

WAC was first reported in relation to autosomal dominant Desanto-Shinawi syndrome in 2014 (25356899: Hamdan et al. 2014). At least six de novo, loss of function unique variants have been reported. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands from three publications (25356899; 26264232; 26757981). Germline mosaicism has been reported. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency. Expression data and an animal model are available, however, there is insufficient information to score either piece of experimental evidence (26757981). In summary, there is strong genetic evidence to support the relationship between WAC and Desanto-Shinawi syndrome, autosomal dominant. Additional functional evidence is needed to reach a definitive classification.

PubMed IDs:

25356899 26264232 26757981

Assertion Criteria:

Click here to view assertion criteria

https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.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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