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Relevance to Autism

Genetic association has been found between the LAMB1 gene and autism. Positive association with a LAMB1 SNP was found in the Collaborative Linkage Study of Autism cohort (Hutcheson et al., 2004).

Molecular Function

The encoded protein belongs to the family of extracellular matrix glycoproteins. It is a subunit of laminin 1, laminin 2 and laminin 6.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes.
ASD
Positive Association
LAMB1 polymorphism is associated with autism symptom severity in Korean autism spectrum disorder patients.
ASD subphenotype
Support
Integrating de novo and inherited variants in 42
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN143R001 
 missense_variant 
 c.5189T>C 
 p.Leu1730Ser 
 De novo 
  
  
 GEN143R002 
 missense_variant 
 c.5035G>A 
 p.Val1679Met 
 De novo 
  
 Simplex 
 GEN143R003 
 missense_variant 
 c.116C>A 
 p.Thr39Lys 
 De novo 
  
 Simplex 
 GEN143R004 
 stop_gained 
 c.4720C>T 
 p.Arg1574Ter 
 De novo 
  
 Simplex 
 GEN143R005 
 frameshift_variant 
 c.-8del 
  
 Familial 
 Paternal 
 Simplex 
 GEN143R006 
 splice_site_variant 
 c.5065-3_5065-2dup 
  
 Familial 
 Paternal 
 Simplex 
 GEN143R007 
 stop_gained 
 c.3388C>T 
 p.Arg1130Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN143R008 
 missense_variant 
 c.5324T>C 
 p.Ile1775Thr 
 De novo 
  
  
 GEN143R009 
 missense_variant 
 c.1637G>C 
 p.Gly546Ala 
 De novo 
  
 Multiplex 
 GEN143R010 
 missense_variant 
 c.4930G>A 
 p.Ala1644Thr 
 De novo 
  
  
 GEN143R011 
 splice_region_variant 
 c.3295-4G>A 
  
 De novo 
  
  
 GEN143R012 
 missense_variant 
 c.2647T>C 
 p.Cys883Arg 
 De novo 
  
  
 GEN143R013 
 synonymous_variant 
 c.459G>A 
 p.Ser153%3D 
 De novo 
  
  
 GEN143R014 
 missense_variant 
 c.1505A>G 
 p.Asn502Ser 
 De novo 
  
 Simplex 
 GEN143R015 
 missense_variant 
 c.4931C>T 
 p.Ala1644Val 
 De novo 
  
  
 GEN143R016 
 missense_variant 
 c.4931C>T 
 p.Ala1644Val 
 De novo 
  
 Simplex 
 GEN143R017 
 frameshift_variant 
 c.4408_4409del 
 p.Leu1470GlufsTer4 
 Familial 
 Paternal 
 Multiplex 
 GEN143R018 
 frameshift_variant 
 c.3490_3499del 
 p.Lys1164GlufsTer22 
 Familial 
 Maternal 
 Multiplex 
 GEN143R019 
 frameshift_variant 
 c.1293del 
 p.Asn431LysfsTer17 
 Familial 
 Paternal 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN143C001 
 intron_variant 
 rs2249956 
 c.213+387G>A 
  
 CLSA 
 Discovery 
 GEN143C002 
 intron_variant 
 rs2158836 
 c.3392-36T>C;c.3650-36T>C 
  
 Korean ASD cases 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
7
Deletion
 2
 
7
Deletion-Duplication
 28
 
7
Deletion
 1
 
7
Deletion
 1
 

No Animal Model Data Available





Download LAMB1's Cytoscape file


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