---
title: Why are DiagAI Score components sometimes Disabled or OFF?
description: A guide to disabled DiagAI score components. Understand why the Phenotype section (missing HPO), Family Pattern (not a trio), or Expert Rules (failed QC) may be inactive.
---
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# Why are DiagAI Score components sometimes Disabled or OFF?
## Understand the reasons why some components of the DiagAI score may appear inactive in your analysis.
The **DiagAI score** is a dynamic system that ranks germline variants using the 3 components illustrated below [(detailed article available here)](https://support.seqone.com/knowledge-base/what-is-the-diagai-score?hsLang=en). A component only becomes active when it has the specific data it needs to run. If the required information isn't available, the component will appear disabled.
Here are the common reasons why a section of the DiagAI score might be inactive .
đź’ˇ **Tip:** The sections below explain why certain components might be inactive. **Generally speaking**:
- **"Disabled"** means the component is inactive due to compatibility in the analysis design or a technical reason.
- **"OFF"** means the component is active, but it scored zero for this specific variant.
---
### 1. Phenotype Score Disabled (No HPO Terms) 🧬
The **Phenotype** component is disabled if no **patient phenotypes** (**HPO terms**) have been provided for the analysis.
This part of the score works by checking if the variant's gene is linked to the patient's reported symptoms. If there are no phenotypes to check against, this component is simply deactivated and does not contribute to the final DiagAI score.
đź’ˇ **Note:** if the Phenotype section displays "**OFF**", it means that the HPO are present but no match was found for this variant (Score: +0).
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---
### 2. Family Pattern Disabled (Not a Trio Analysis) đź‘Ş
The **Family Pattern** component is disabled for any analysis that is not a complete **Trio** (proband + father + mother).
This rule assesses a variant's inheritance pattern, which requires genotype information from both parents to be accurate. In **solo** analyses, this check is marked as **Disabled**Â and will not affect the DiagAI score.
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đź’ˇ **Note:** In Trio analyses, this rule adds 14 points to the score if the inheritance pattern is confirmed by parental genotypes for any of the following transmission modes: **Compound Heterozygous**, **Homozygous**, **X-linked (maternal inheritance)**, or ***De Novo***.
If the transmission mode is different or inconsistent with the observed family pattern, the rule is not greyed out but marked as **OFF**, and no points are added to the score.Â
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---
### 3. Expert Rules Disabled (Variant Fails QC) ⚙️
If a variant fails its initial **Quality Checks (QCs)**, the entire **Expert Rules** section is automatically deactivated and appears grayed out.
This is intentional. The Expert Rules act as "boosters" to a variant's score. If a variant's fundamental quality is poor—based on its **Phred score**, **Variant Allele Frequency**, and **cohort frequency**—it shouldn't be eligible for a score boost, so the system prevents these rules from being applied.
**đź’ˇ Notes:**
- For **WGS analyses**, the variant quality (QUAL) score is purposefully excluded from these QCs. This is to compensate for different variant callers using varied QUAL calculation methods, or not providing a straightforward QUAL. In this specific case, the Expert Rules section can remain active even for variants that display a low quality score.
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---
### 4. Expert Rules Disabled (Variant is highly benign) đź©ą
For variants classified as **highly benign** (UP2 score \< -0.9), Expert Rule bonuses are also automatically disabled. Â The variant can still get a **QC bonus**, but it won't qualify for **PanelApp Green**, **Inheritance compatibility**, or **Family pattern** bonuses. These variants are also excluded from **Compound Heterozygous** predictions.
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