LRBA
Homo sapiens
Gene Name: LPS-responsive vesicle trafficking, beach and anchor containing
Aliases: BGL, CDC4L, CVID8, LAB300, LBA
Chromosome No: 4
Chromosome Band: 4q31.3
Genetic Category: Rare single gene variant-
Aliases: BGL, CDC4L, CVID8, LAB300, LBA
Chromosome No: 4
Chromosome Band: 4q31.3
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 14
Recent Reports: 1
Annotated variants: 29
Associated CNVs: 9
Evidence score: 3
ASD Reports: 14
Recent Reports: 1
Annotated variants: 29
Associated CNVs: 9
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
This gene was identified as a novel ASD candidate gene in Gonzalez-Mantilla et al., 2016 based on the presence of two potentially pathogenic loss-of-function variants in ASD cases (single gene deletions of unknown origin in probands from AGRE and the Simons Simplex Collection in Gai et al., 2012 and Girirajan et al., 2013, respectively).
Molecular Function
May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare structural variation of synapse and neurotransmission genes in autism.
ASD
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Recent Recommendation
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN802R015
frameshift_variant
c.4427del
p.His1476LeufsTer6
Familial
Maternal
Simplex
GEN802R025
missense_variant
c.6553G>A
p.Val2185Ile
De novo
Multiplex
GEN802R026
missense_variant
c.516C>A
p.Phe172Leu
De novo
Multiplex
Common
No Common Variants Available
