LRRC4Cleucine rich repeat containing 4C
Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants3 / 0
AliasesLRRC4C, NGL-1, NGL1
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Three de novo missense variants, including one that was predicted to be probably damaging (defined as MPC 2), were identified in the LRRC4C gene in ASD probands from the Autism Sequencing Consortium, while a protein-truncating variant in this gene was observed in a case sample from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified LRRC4C as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).
NGL1 is a specific binding partner for netrin G1 (NTNG1), which is a member of the netrin family of axon guidance molecules, and it may promote neurite outgrowth of developing thalamic neurons.
Reports related to LRRC4C (1 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism||Satterstrom FK et al. (2020)||Yes||-|
Rare Variants (3)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.467G>A||p.Arg156Gln||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
|c.488T>A||p.Ile163Asn||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
|c.1792T>C||p.Tyr598His||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
No common variants reported.