ATP6V0C variants cause a human syndrome of developmental delay, epilepsy and intellectual disability

[srengel]

Include:

• new disease terms or updates to DO's disease terms

this is a request for a new term to cover the syndrome described in PMID:36074901:
Mattison KA, et al. (2023) ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain 146(4):1357-1372

• include the term name in the title of the request

there isn't a great name, in the paper the authors call it a "syndrome of developmental delay, epilepsy and intellectual disability"

• It is helpful to include a definition and PubMed reference for new terms

proposed definition: A neurodevelopmental disorder that is characterized by developmental delay with early onset epilepsy and intellectual disability and that has_material_basis_in mutation of the ATP6V0C gene on chromosome 16p13.3.

• It is useful to share information on the relevant project

i came across this paper while doing disease curation for Saccharomyces Genome Database.

• include contact information along with your ORCID id, so that we can provide attribution for your contribution

ORCID: 0000-0001-5472-917X

[csbjohnson]

Thank you very much for your term request for human syndrome of developmental delay, epilepsy and intellectual disability, @srengel.

We'll review it, get back to you soon and update the DO for the next release.

[lschriml]

Hello Stacie,
Thank you for the term request. From the literature I can see that variants in this gene have been found to be linked to epilepsy. In the most recent papers, however, I am not yet seeing a specifically named or characterized disease.
I think we should wait on naming a disease for this variant, until there is more evidence.

Cheers,
Lynn

Notes:

Looking at OMIM, from the point of view of the gene,
https://www.omim.org/entry/108745?search=atp6v0c&highlight=atp6v0c

citing paper:
https://pubmed.ncbi.nlm.nih.gov/37161035/

• ATP6V0C gene variants as a new association with epilepsy were reported recently [6,7,8]. The phenotypic and genetic spectrum still needs to be expanded.