New Term Request: Developmental and epileptic encephalopathy 64

[vjenkinsFB]

I'd like to request a term for developmental and epileptic encephalopathy 64.

OMIM: https://omim.org/entry/618004

Potential definition: Developmental and epileptic encephalopathy 64 has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21.

Potential parent term: developmental and epileptic encephalopathy

Synonyms: DEE64, RHOBTB2-related developmental and epileptic encephalopathy, EIEE64, epileptic encephalopathy early infantile 64

ClinVar search term: RHOBTB2[gene] AND ((("clinsig pathogenic"[Properties] OR "clinsig pathogenic low penetrance"[Properties] OR "clinsig established risk allele"[Properties]) OR ("clinsig likely pathogenic"[Properties] OR "clinsig likely pathogenic low penetrance"[Properties] OR "clinsig likely risk allele"[Properties]) OR ("clinsig vus"[Properties] OR "clinsig uncertain risk allele"[Properties]) OR ("clinsig has conflicts"[Properties])) AND (1[VARLEN] : 1000[VARLEN] AND "single gene"[Properties]))

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/clinvar/variation/1027750/

MalaCards page: https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_64

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/18756

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/29768694/ Belal H, Nakashima M, Matsumoto H, et al. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. Hum Mutat. 2018;39(8):1070-1075. doi:10.1002/humu.23550
• https://pubmed.ncbi.nlm.nih.gov/33504645/ Zagaglia S, Steel D, Krithika S, et al. RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood. Neurology. 2021;96(11):e1539-e1550. doi:10.1212/WNL.0000000000011543

FlyBase paper(s) to curate with this term: FBrf0237483

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Thank you very much for your term request for developmental and epileptic encephalopathy 64, @vjenkinsFB.

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

[allenbaron]

This disease has been added (2b4ea09d76aae436ba095d31064f1661b6dce9f4) and will be in the next release as DOID:0070375.