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Related to Incomplete penetrance: incomplete dominance, Variable penetrance


The frequency, under given environmental conditions, with which a specific phenotype is expressed by those individuals with a specific genotype.


(Genetics) genetics the percentage frequency with which a gene exhibits its effect
[C20: from penetr(ant) + -ance, on the model of German penetranz]


(ˈpɛn ɪ trəns)

the frequency, expressed as a percentage, with which a particular gene produces its effect in a group of organisms. Compare expressivity (def. 2).
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An autosomal dominant model with incomplete penetrance and variable expression has been proven, but both autosomal recessive and X-linked inheritance have been suggested.
However, due to incomplete penetrance, symptoms may be involved in isolated organs, which may manifest as mild incomplete diseases or involve multiple organs.
Brugada Syndrome is an arrhythmic genetic syndrome inherited as autosomal dominant with incomplete penetrance and variable expressivity.
It's autosomal dominant and has incomplete penetrance and variable expression," she said.
Hailey-Hailey disease is a genodermatosis characterized by incomplete penetrance of an autosomal dominant disorder with defects in the ATP2C1 gene.
This suggests that the mutation was inherited from the mother and not the father The sequencing of UBQLN2-S3401 in this case indicated the presence of an X-linked ALS/FTD with incomplete penetrance in this family (Figure l).
1) Previous studies have shown incomplete penetrance in carriers of MCP and CFH mutations.
In 30% of the cases inheritance is thought to be polygenic or autosomal dominant with incomplete penetrance and variable expression.
This complicates interpretation of results regarding incomplete penetrance or variable expressivity.
Family history has been observed in 10% of moyamoya patients (9) and familial moyamoya disease may be autosomal dominant with incomplete penetrance that depends on age and genomic imprinting factors (10).
Inheritance of the condition occurs via an autosomal dominant mode of transmission with incomplete penetrance (4).
A simple autosomal recessive and dominant gene with incomplete penetrance have been reported to be linked with hydrocephalus in cattle.

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