Human Gene Module / Chromosome 11 / LRRC4C

LRRC4Cleucine rich repeat containing 4C

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
3 / 0
Aliases
LRRC4C, NGL-1,  NGL1
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
11p12
Associated Disorders
-
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.

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)
Common Variants  

No common variants reported.

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