Aliases: GARNL1, GRIPE, NEDHRIT, RalGAPalpha1, TULIP1, p240
Chromosome No: 14
Chromosome Band: 14q13.2
Genetic Category: Rare single gene variant
ASD Reports: 7
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 8
Evidence score: 3
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Relevance to Autism
Whole exome sequencing of 75 Turkish patients diagnosed with ASD (based on DSM-5 criteria) identified a homozygous missense variant in the RALGAPA1 gene in a 10-year-old male presenting with ASD and developmental delay in Kayhan et al., 2026. Additional de novo variants in this gene, including a de novo loss-of-function variant and multiple de novo missense variants, have been reported in ASD probands from the Simons Simplex Collection, the SPARK cohort, the Autism Sequencing Consortium, and a Chinese ASD cohort (De Rubeis et al., 2014; Iossifov et al., 2014; Zhou et al., 2022; Fu et al., 2022; Yuan et al., 2023), while maternally-inherited loss-of-function variants in this gene were identified in two unrelated multiplex ASD families from the mAGRE cohort in Cirnigliaro et al., 2023.
Molecular Function
This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. Biallelic variants in this gene are responsible for neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT; OMIM 618797).
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