Intellectual disability
Gene: MYCBP2

MYCBP2 (MYC binding protein 2, E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000005810
EnsemblGeneIds (GRCh37): ENSG00000005810
OMIM: 610392, Gene2Phenotype
MYCBP2 is in 2 panels

1 review

Ludmila Volozonoka (Children's Clinical University Hospital)

Green List (high evidence)

PMID: 36200388 reports eight de novo MYCBP2 variants (two loss-of-function and six missense) in patients presenting with dysmorphism, global developmental delay, varying degrees of intellectual disability, language delay, and ASD. Less common features include corpus callosum dysgenesis and epilepsy.

PMID: 41200582 describes a loss-of-function MYCBP2 variant identified in a mother and her two sons, all exhibiting similar clinical features as in PMID: 36200388.

PMID: 41543631 demonstrates another loss-of-function variant in a proband with NDD, inherited from a mother with mild features (notably subtle executive dysfunction).
The gene is highly constrained of LOF variants in a general population (pLI = 1).
Sources: Literature
Created: 23 Mar 2026, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 23 Mar 2026, 3:31 p.m.

Panel version: 9.346

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

OMIM

610392

Clinvar variants

Variants in MYCBP2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Mar 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications

Ludmila Volozonoka (Children's Clinical University Hospital)

gene: MYCBP2 was added gene: MYCBP2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYCBP2 were set to 41200582; 36200388; 41543631 Review for gene: MYCBP2 was set to GREEN

Intellectual disability Gene: MYCBP2