New Term Request: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

[vjenkinsFB]

I'd like to request a term for neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

OMIM: https://www.omim.org/entry/617862

Potential definition: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21.

Potential parent term: autosomal recessive intellectual developmental disorder

Synonyms: NEDMEBA, TRAPPC6B-related neurodevelopmental disorder

ClinVar search term: TRAPPC6B[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C4693390 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy. There is an entry for TRAPPC6B-related neurodevelopmental disorder, but it is a broken link, so I suspect it got deprecated after OMIM came up with a name, but should probably be a synonym.

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

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23066

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/31687267/ Nair P, El-Bazzal L, Mansour H, et al. Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review. J Pediatr Genet. 2019;8(4):252-256. doi:10.1055/s-0039-1693664
• https://pubmed.ncbi.nlm.nih.gov/37713627/ Almousa H, Lewis SA, Bakhtiari S, et al. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain. 2024;147(1):311-324. doi:10.1093/brain/awad301
• https://pubmed.ncbi.nlm.nih.gov/35150401/ Rasool IG, Zahoor MY, Ahmed I, et al. Description of novel variants in consanguineous Pakistani families affected with intellectual disability. Genes Genomics. 2023;45(4):457-465. doi:10.1007/s13258-022-01219-y

FlyBase paper(s) to curate with this term: FBrf0258466

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

[csbjohnson]

Hi @vjenkinsFB,

Thank you for your request. I've added neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy to the Disease Ontology. You can expect to see this addition reflected in the next release.

Best, Claudia Marie Sánchez-Beato Johnson