Aliases: NGL-1, NGL1
Chromosome No: 11
Chromosome Band: 11p12
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 11
Evidence score: 2
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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).
Molecular Function
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.
External Links
