LAMA1
Homo sapiens
Gene Name: Laminin, alpha 1
Aliases: LAMA, S-LAM-alpha
Chromosome No: 18
Chromosome Band: 18p11.31
Genetic Category: Genetic association-Rare single gene variant-Syndromic
Aliases: LAMA, S-LAM-alpha
Chromosome No: 18
Chromosome Band: 18p11.31
Genetic Category: Genetic association-Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 17
Recent Reports: 0
Annotated variants: 32
Associated CNVs: 10
Evidence score: 3
ASD Reports: 17
Recent Reports: 0
Annotated variants: 32
Associated CNVs: 10
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A SNP within the LAMA1 gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).
Molecular Function
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD, ID
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study
Poretti-Boltshauser syndrome
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Support
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD, ID
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN403R001
synonymous_variant
c.8214G>T
p.Ser2738=
De novo
Unknown
GEN403R013
frameshift_variant
c.3428_3429insACCCCCTGGGCTGCAGCCC
p.Asn1143LysfsTer50
De novo
GEN403R016a
frameshift_variant
c.1034del
p.Gln345ArgfsTer5
Familial
Maternal
Simplex
GEN403R016b
frameshift_variant
c.3038_3039del
p.Glu1013ValfsTer13
Familial
Paternal
Simplex
GEN403R017b
inframe_deletion
c.8208_8214delinsT
p.Lys2736_Ser2738delinsAsn
Unknown
GEN403R019a
missense_variant
c.7282C>T
p.Arg2428Cys
Familial
Paternal
Simplex
GEN403R019b
missense_variant
c.2900G>A
p.Gly967Asp
Familial
Maternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN403C001
intron_variant
rs600695
c.1840-257C>T
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
