Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders
Bibliographic record
Abstract
Fatty acid amide hydrolase 2 (FAAH2) is an enzyme involved in the degradation of endocannabinoids in humans. Altered FAAH2 activity has been implicated in various neurological and psychiatric conditions. We describe a male patient presenting with anxiety disorder, autistic-like traits, and borderline intellectual functioning (BIF), as well as metabolic disturbances including obesity and hepatic steatosis. Trio-based whole-exome sequencing (WES) identified the novel hemizygous c.988C > A (p.Gln330Lys) variant in the X-linked FAAH2 gene, which currently lacks an associated MIM phenotype. Structural modelling suggested that the variant induces multiple alterations in the amidase signature (AS), a key functional domain of the enzyme. These findings contribute to the emerging evidence supporting FAAH2 as a candidate gene for a neurodevelopmental phenotype with metabolic involvement, consistent with an X-linked inheritance pattern.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".