FAM98C
Homo sapiens
Gene Name: family with sequence similarity 98 member C
Aliases:
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 2
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Transmitted protein-truncating variants (PTVs) in the FAM98C gene were identified in probands from the Autism Sequencing Consortium (De Rubeis et al., 2014), while a de novo splice-site variant and transmitted nonsense variants in this gene were identified in ASD probands from multiplex families from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified FAM98C as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Molecular Function
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD