DGKIdiacylglycerol kinase iota
Autism Reports / Total Reports
4 / 5Rare Variants / Common Variants
4 / 0Aliases
-Associated Syndromes
-Chromosome Band
7q33Associated Disorders
-Relevance to Autism
A maternally-inherited frameshift variant in the DGKI gene was observed in two of three ASD-affected siblings from a multiplex family from the iHART cohort (Ruzzo et al., 2019), while de novo missense variants that were predicted to be damaging were identified in this gene in two ASD probands (Satterstrom et al., 2020; More et al., 2023). This gene has previously been reported to have a possible association with susceptibility to dyslexia in Finnish and German populations (Matsson et al., 2011).
Molecular Function
This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration.
External Links
SFARI Genomic Platforms
Reports related to DGKI (5 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Positive Association | - | Matsson H et al. (2011) | No | - |
2 | Primary | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
3 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
4 | Support | - | More RP et al. (2023) | Yes | - |
5 | Support | - | Soo-Whee Kim et al. (2024) | Yes | - |
Rare Variants (4)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.2572C>T | p.Pro858Ser | missense_variant | De novo | - | - | 39334436 | Soo-Whee Kim et al. (2024) | |
c.224G>T | p.Gly75Val | missense_variant | De novo | - | Multiplex | 36702863 | More RP et al. (2023) | |
c.3016C>T | p.Leu1006%3D | missense_variant | De novo | - | - | 31981491 | Satterstrom FK et al. (2020) | |
c.2285_2286insGT | p.Cys762TrpfsTer11 | frameshift_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Suggestive Evidence


Score Delta: Score remained at 3
criteria met
See SFARI Gene'scoring criteriaThe literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.
4/1/2023

Increased from to 3
Krishnan Probability Score
Score 0.57120635648313
Ranking 807/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.73801617179664
Ranking 4279/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94911921200864
Ranking 17961/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.32497638011321
Ranking 2360/20870 scored genes
[Show Scoring Methodology]