ClinGen Dosage Sensitivity Curation Page
ZMYND11
- Curation Status: Complete
- id: ISCA-15005
- Date last evaluated: 2018-03-28
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about ZMYND11 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/10771
- OMIM: https://omim.org/entry/608668
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30
| PubMed ID | Description |
|---|---|
| 25217958 | Coe et al. (2014) identified loss-of-function variants in the ZMYND11 gene in seven individuals from six families with autosomal dominant intellectual disability-30 (MRD30) (OMIM # 616083), characterized by developmental delay, mild intellectual disability concurrent with speech and motor delays, as well as complex neuropsychiatric behavioral and characteristic facial features. In this study, one affected individual had inherited the variation from his more mildly affected father. De novo events were observed in two unrelated individuals. Inheritance pattern could not be determined in the remaining three families. |
| 22542183 | Iossifov et al. (2012) identified a de novo splice site variation in a patient with autism spectrum disorder using whole genome sequencing. |
| 27626064 | Moskowitz et al. (2016) reported a de novo missense mutation in ZMYND11 in a patient with global developmental delay, seizures, and hypotonia. |
Haploinsufficiency phenotype comments:
Zinc finger MYND-type containing 11 (ZMYND11) gene mutations were identified in individuals with autism spectrum disorder, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is a critical gene in 10p15.3 microdeletion syndrome (PMID: 22847950). Cobben et al (2014) reported a de novo missense mutation in ZMYND11 in a patient with severe developmental delay, hypotonia, feeding difficulties, short stature, and microcephaly. Tumiene et al (2017) compared the clinical phenotypes of patients with 10p15.3 deletions with the phenotypes of patients with loss-of-function ZMYND11 mutations. This study further confirmed that the ZMYND11 gene is the critical gene for the clinical phenotype of 10p15.3 microdeletion syndrome (PMID: 28933030).
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
| PubMed ID | Description |
|---|---|
| 23375656 | Girirajan et al (2013) found that copy number gains of ZMYND11 were enriched in autism cohort (2 in 2,588) as opposed to controls (0 in 580 and 0 in 2,090). |
Triplosensitivity phenotype comment:
Copy number gains of ZMYND11 were enriched in autism cohort (2 in 2,588) as opposed to controls (0 in 580 and 0 in 2,090).