# Gene Penetrance & Expressivity Calculator

Estimate penetrance f = affected carriers / total carriers with nonpenetrance, plus a severe/moderate/mild expressivity breakdown among affected carriers. Derived from Wright, Griffiths, OMIM, StatPearls. Educational use only.

> Canonical page: https://elysiatools.com/en/tools/gene-penetrance-calculator

- **Category:** Education

- **Keywords:** penetrance, penetrance calculator, incomplete penetrance, expressivity, variable expressivity, genotype phenotype relationship, neurofibromatosis penetrance, polydactyly, mendelian genetics, genetics

## Overview

Calculate gene penetrance from affected and total genotype carrier counts, then summarize severe, moderate, and mild expressivity among affected carriers. The results are provided for educational use only.

## Inputs

- **Total genotype carriers** (number): Total number of individuals known to carry the genotype.
- **Affected (phenotype present)** (number): Carriers who show the phenotype in any degree.
- **Severe expression cases** (number): Affected carriers with severe expression.
- **Mild expression cases** (number): Affected carriers with mild expression.
- **Decimal Places** (number)

## When to use

- Estimate complete or incomplete penetrance in a genetics exercise or study dataset.
- Compare phenotype severity among carriers who express a trait.
- Demonstrate the difference between penetrance and variable expressivity.

## How it works

- Enter the total number of genotype carriers and the number who show the phenotype.
- Enter the affected carriers classified as severe and mild; moderate cases are calculated as the remaining affected carriers.
- The calculator divides affected carriers by total carriers to find penetrance and calculates nonpenetrance as 1 minus penetrance.
- It returns the penetrance, nonpenetrance, and expressivity proportions in JSON, rounded to the selected number of decimal places.

## Use cases

- Calculate penetrance and nonpenetrance from observed carrier counts.
- Summarize severe, moderate, and mild phenotype expression in an affected group.
- Create worked examples for Mendelian genetics and genotype-phenotype lessons.

## Frequently asked questions

### What is gene penetrance?

Penetrance is the proportion of genotype carriers who show the associated phenotype.

### How is nonpenetrance calculated?

Nonpenetrance equals 1 minus penetrance, or unaffected carriers divided by total carriers.

### How are moderate expression cases determined?

Moderate cases are the affected carriers remaining after severe and mild cases are subtracted.

### What is the difference between penetrance and expressivity?

Penetrance indicates whether a phenotype appears, while expressivity describes its severity among affected carriers.

### Can this calculator provide medical or genetic counseling?

No. It is an educational calculator and does not replace clinical assessment or genetic counseling.

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