Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55777
MIM: 611472
HGNC: 20444
Ensembl: ENSG00000204406
Variants:
dbSNP: 55777
ClinVar: 55777
TCGA: ENSG00000204406
COSMIC: MBD5
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35385942 | 2022 | [Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants]. | 0 |
| 36396431 | 2022 | Germline mosaicism in a family with MBD5 haploinsufficiency. | 0 |
| 35385942 | 2022 | [Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants]. | 0 |
| 36396431 | 2022 | Germline mosaicism in a family with MBD5 haploinsufficiency. | 0 |
| 33427406 | 2021 | MBD5-related intellectual disability in a Vietnamese child. | 1 |
| 33510365 | 2021 | Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. | 5 |
| 34459404 | 2021 | Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene. | 1 |
| 33427406 | 2021 | MBD5-related intellectual disability in a Vietnamese child. | 1 |
| 33510365 | 2021 | Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. | 5 |
| 34459404 | 2021 | Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene. | 1 |
| 28295210 | 2017 | Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. | 26 |
| 28807762 | 2017 | Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy. | 4 |
| 28295210 | 2017 | Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. | 26 |
| 28807762 | 2017 | Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy. | 4 |
| 25271084 | 2015 | MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. | 16 |
Citation
Dessen P
MBD5 (methyl-CpG binding domain protein 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68828/mbd5-(methyl-cpg-binding-domain-protein-5)
