Callosome
Gene: MYCBP2EnsemblGeneIds (GRCh38): ENSG00000005810
EnsemblGeneIds (GRCh37): ENSG00000005810
OMIM: 610392, Gene2Phenotype
MYCBP2 is in 4 panels
1 review
Suliman Khan (Victorian Clinical Genetics Services)
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
- PMID: 36200388
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related
- corpus callosum abnormalities
- OMIM
- 610392
- Clinvar variants
- Variants in MYCBP2
- Penetrance
- Complete
- Publications
-
- PMID: 36200388
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mycbp2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYCBP2 were changed from neurodevelopmental spectrum disorder with corpus callosum defects to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mycbp2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Suliman Khan (Victorian Clinical Genetics Services)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