KMT2E
Homo sapiens
Gene Name: Lysine (K)-specific methyltransferase 2E
Aliases: HDCMC04P, MLL5, NKp44L
Chromosome No: 7
Chromosome Band: 7q22.3
Genetic Category: Rare single gene variant-Genetic association-Syndromic-Functional-Syndromic/Functional
Associated Syndrome(s): O'Donnell-Luria-Rodan syndrome
Aliases: HDCMC04P, MLL5, NKp44L
Chromosome No: 7
Chromosome Band: 7q22.3
Genetic Category: Rare single gene variant-Genetic association-Syndromic-Functional-Syndromic/Functional
Associated Syndrome(s): O'Donnell-Luria-Rodan syndrome
Summary Statistics:
ASD Reports: 23
Recent Reports: 3
Annotated variants: 99
Associated CNVs: 7
Evidence score: 4
ASD Reports: 23
Recent Reports: 3
Annotated variants: 99
Associated CNVs: 7
Evidence score: 4
Gene Score: 3S
Associated Disorders: |
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Relevance to Autism
De novo frameshift variants in this gene have been identified in unrelated ASD cases from the Simons Simplex Collection (Iossifov et al., 2012; Dong et al., 2014).
Molecular Function
Histone methyltransferase that specifically mono- and dimethylates 'Lys-4' of histone H3 (H3K4me1 and H3K4me2). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
ASD
Support
ODLURO syndrome: personal experience and review of the literature
O'Donnell-Luria-Rodan syndrome
ID, epilepsy/seizures
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
O'Donnel-Luria-Rodan Syndrome: New gene variant identified in Romania (A case report)
O'Donnell-Luria-Rodan syndrome, ASD, DD, ID
Support
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
DD, ID
Autistic features
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Case Report: A Novel KMT2E Splice Site Variant as a Cause of O'Donnell-Luria-Rodan Syndrome in a Male Patient
O'Donnell-Luria-Rodan syndrome, DD, ID, epilepsy/s
Support
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene
O'Donnell-Luria-Rodan syndrome, DD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
ADHD, ID
Support
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
ASD, ID
Support
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
TS
Support
Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review
O'Donnell-Luria-Rodan syndrome, DD, epilepsy/seizu
ASD, ID
Support
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half
ASD
OCD, ID, epilepsy/seizures
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Recent Recommendation
Identification of common genetic risk variants for autism spectrum disorder.
ASD
Recent Recommendation
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
O'Donnell-Luria-Rodan syndrome, DD
ASD, ID
Recent Recommendation
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN636R003
frameshift_variant
c.3527_3530del
p.Thr1176ArgfsTer16
Familial
Maternal
GEN636R007
frameshift_variant
c.450dup
p.Arg151Ter
Unknown
Not maternal
Multi-generational
GEN636R011
frameshift_variant
c.1239del
p.Asn414MetfsTer4
Unknown
Not maternal
GEN636R013
frameshift_variant
c.1773_1777del
p.Lys593ArgfsTer17
De novo
GEN636R014
frameshift_variant
c.1776_1780del
p.Lys593ArgfsTer17
De novo
GEN636R018
frameshift_variant
c.2602_2605del
p.Thr868HisfsTer3
De novo
GEN636R022
frameshift_variant
c.3198_3234del
p.Trp1067GlnfsTer2
Unknown
Not maternal
GEN636R023
frameshift_variant
c.3494_3495del
p.Arg1165ThrfsTer3
De novo
GEN636R026
frameshift_variant
c.4397_4398insCACAGCATGGTTATCTTTC
p.Pro1467ThrfsTer75
De novo
GEN636R027
frameshift_variant
c.4485_4486del
p.Gln1496LysfsTer39
De novo
GEN636R028
frameshift_variant
c.4829dup
p.Leu1610PhefsTer259
De novo
GEN636R029
frameshift_variant
c.4872dup
p.Val1625ArgfsTer244
De novo
GEN636R030
frameshift_variant
c.5453_5460del
p.Val1818AlafsTer48
Unknown
Not maternal
GEN636R041
frameshift_variant
c.549del
p.Asn183LysfsTer33
Familial
Paternal
Multiplex
GEN636R076
frameshift_variant
c.1099_1103dup
p.Glu369SerfsTer25
Familial
Paternal
GEN636R088
frameshift_variant
c.2334_2337del
p.Tyr779AlafsTer41
Unknown
Not maternal
GEN636R092
inframe_indel
c.3337_3341delinsGTTTATGGAAA
p.Arg1113_Gly1114delinsValTyrGlyAsn
Familial
Maternal
Multiplex
GEN636R093
frameshift_variant
c.2077_2093del
p.Ile693TyrfsTer7
De novo
Simplex
GEN636R096
frameshift_variant
c.4743_4744del
p.Phe1582TyrfsTer286
De novo
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN636C001
intron_variant
rs111931861
c.2196+1578A>G
Combined cohort consisting of 18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC) used in the main GWAS analysis, and five cohorts of European ancestry including a total of 2,119 additional ASD cases and 142,379 controls
Discovery