DNM1L
Homo sapiens
Gene Name: Dynamin 1-like
Aliases: DLP1, DRP1, DVLP, DYMPLE, DYNIV-11, EMPF, HDYNIV, VPS1
Chromosome No: 12
Chromosome Band: 12p11.21
Genetic Category: Functional-Rare single gene variant
Aliases: DLP1, DRP1, DVLP, DYMPLE, DYNIV-11, EMPF, HDYNIV, VPS1
Chromosome No: 12
Chromosome Band: 12p11.21
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 12
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 3
Evidence score: 2
ASD Reports: 12
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Reduced expression in two out of three brain regions (anterior cingulate gyrus, motor cortex, and thalamus) following gene expression analysis of postmortem brain tissue of autism patients (Anitha et al., 2012).
Molecular Function
Functions in mitochondrial and peroxisomal division. Required for normal brain development. Defects in DNM1L are the cause of encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [MIM:614388].
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Brain region-specific altered expression and association of mitochondria-related genes in autism.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Epilepsy/seizures
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
Support
Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense v...
DD
Support
Diagnostic findings and yield of investigations for children with developmental regression
Developmental regression
ID, epilepsy/seizures
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
DD
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD, epilepsy/seizures
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN427R005
frameshift_variant
c.896del
p.Asp299ValfsTer6
Familial
Maternal
Multiplex
GEN427R012
frameshift_variant
c.1430_1431dup
p.Val478LeufsTer10
Unknown
Common
No Common Variants Available
