Developmental Brain Disorder Gene Database
LoF Variant Gene
Gene
Search
Tier
1
- Unique Cases:
- 30
- Disorders:
- ID, ASD, EP, ADHD, SCZ, CP
- Last Updated:
- January 24, 2024
Gene Summary:
- DBD Genes Classification
- KMT2E is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:23798402, PubMed:24130829). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:23798402, PubMed:24130829). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA met... (Source: Uniprot)
- Previous symbols
- MLL5
- Alias symbols
- HDCMC04P, SETD5B
- Chromosomal Location
- 7q22.3
- Genomic Coordinates
- GRCh37:chr7:104654637-104754532
- GRCh38:chr7:104940949-105115019
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder, Cerebral Palsy
Predictive Scores:
- HI Score (Decipher)
19.81
- pLI (gnomAD)
1.00
- LOEUF (gnomAD)
0.06
Classifications from External Sources:
- SFARI Score (SFARI)
1
- DDG2P Classification (DDG2P)
No Classification
- ClinGen Classification (ClinGen)
Definitive1
- GenCC Classification (GenCC)
Strong2 Definitive2 Moderate1 Supportive1
Cases:
Publications:
Dong S et. al., De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder., Cell Rep, 2014 |
Wang T et. al., De novo genic mutations among a Chinese autism spectrum disorder cohort., Nat Commun, 2016 |
Wang Q et. al., Effect of Damaging Rare Mutations in Synapse-Related Gene Sets on Response to Short-term Antipsychotic Medication in Chinese Patients With Schizophrenia: A Randomized Clinical Trial., JAMA Psychiatry, 2018 |
O'Donnell-Luria AH et. al., Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy., Am J Hum Genet, 2019 |
External References:
![Medgen](https://dbd.geisingeradmi.org/external-resources/medgen.png)
NCBI: Gene
Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
![Gene reviews](https://dbd.geisingeradmi.org/external-resources/gene_reviews.png)
Gene Reviews
An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
![Decipher](https://dbd.geisingeradmi.org/external-resources/decipher-logo-grch38.png)
DECIPHER
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.
DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
![SFARI](https://dbd.geisingeradmi.org/external-resources/SFARI_Logo_2.jpeg)
SFARI
SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
![ClinGen](https://dbd.geisingeradmi.org/external-resources/logo.png)
ClinGen
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
![GenCC](https://dbd.geisingeradmi.org/external-resources/genecc-logo.jpeg)
GenCC
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
![gnomAD](https://dbd.geisingeradmi.org/external-resources/gnomad.jpeg)
gnomAD
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.