Callosome
Gene: MYCBP2
Concerns about LoF variants in population datasets as well as in individuals undergoing diagnostic testing for a wide variety of unrelated phenotypes: downgrade to RED.Created: 29 May 2025, 3:29 p.m. | Last Modified: 29 May 2025, 3:29 p.m.
Panel Version: 0.542
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: LiteratureCreated: 1 Nov 2022, 2:50 a.m. | Last Modified: 1 Nov 2022, 2:52 a.m.
Panel Version: 0.483
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental spectrum disorder with corpus callosum defects
Publications
Gene: mycbp2 has been classified as Red List (Low Evidence).
Gene: mycbp2 has been classified as Green List (High Evidence).
Phenotypes for gene: MYCBP2 were changed from neurodevelopmental spectrum disorder with corpus callosum defects to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Gene: mycbp2 has been classified as Green List (High Evidence).
gene: MYCBP2 was added gene: MYCBP2 was added to Callosome. Sources: Literature Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYCBP2 were set to PMID: 36200388 Phenotypes for gene: MYCBP2 were set to neurodevelopmental spectrum disorder with corpus callosum defects Penetrance for gene: MYCBP2 were set to Complete Review for gene: MYCBP2 was set to GREEN