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*  Leber's hereditary optic neuropathy
The particular mutation type may predict the likelihood of penetrance, severity of illness and probability of vision recovery ... October 2007). "Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland". Eur. J. Hum. Genet. 15 (10): 1079 ...
*  Penetrance
The penetrance of the condition is therefore 80%. High and low penetrance: If an allele is highly penetrant, then the trait it ... The penetrance is 100%. Common examples used to show degrees of penetrance are often highly penetrant. There are several ... An allele with low penetrance will only occasionally produce the trait with which it is associated. In cases of low penetrance ... In one study the age-related penetrance of MEN1 was 7% by age 10 but nearly 100% by age 60. Environmental modifiers: Penetrance ...
*  HFE hereditary haemochromatosis
Penetrance differs between populations. Since the regulation of iron metabolism is still poorly understood, a clear model of ... There is considerable debate regarding the penetrance-the probability of clinical expression of the trait given the genotype-is ...
*  Frontotemporal dementia and parkinsonism linked to chromosome 17
Genetic counseling should be offered to affected and at-risk individuals; for most subtypes, penetrance is incomplete. ...
*  Cerebellothalamic tract
August 2009). "Cerebellothalamocortical connectivity regulates penetrance in dystonia". J. Neurosci. 29 (31): 9740-7. doi: ...
*  BRCA mutation
Chen, S.; Parmigiani, G. (Apr 2007). "Meta-analysis of BRCA1 and BRCA2 penetrance". J Clin Oncol. 25 (11): 1329-33. doi:10.1200 ... These may be reported as "no mutation". Deleterious mutations have high, but not complete, genetic penetrance, which means that ...
*  Marfan syndrome
It is associated with variable expressivity; incomplete penetrance has not been definitively documented. Marfan syndrome is ...
*  Hypodysfibrinogenemia
... exhibits reduced penetrance, i.e. only some family members with the mutated gene develop symptoms. The ... and a much lower rate of penetrance. Hypodysfibrinogenemia causes episodes of pathological bleeding and thrombosis due not only ...
*  Huntingtin
However, 36 or more residues produce an erroneous form of Htt, mHtt (standing for mutant Htt). Reduced penetrance is found in ...
*  CTLA-4
This condition is described to have incomplete penetrance of disease. Penetrance is said to be incomplete when some individuals ... The penetrance is estimated to be about 60%. The clinical symptoms are caused by abnormalities of the immune system. Most ...
*  Familial Mediterranean fever
... penetrance and genetic drift". European Journal of Human Genetics. 9: http://www.nature.com/ejhg/journal/v9/n8/pdf/5200672a.pdf ...
*  Birt-Hogg-DubĂ© syndrome
... has very high penetrance. A correlation between different FLCN genotypes and phenotypes has not been ...
*  Fibrodysplasia ossificans progressiva
The allele has variable expressivity, but complete penetrance. Most cases are caused by spontaneous mutation in the gametes; ...
*  Cat body-type mutation
The Pd gene (dominant with incomplete penetrance) causes the benign, pre-axial form of polydactyly where one or more extra toes ... M = Manx tailless gene (dominant with high penetrance). Cats with the homozygous genotype (MM) die before birth, and stillborn ... Fd = Scottish Fold gene (dominant with incomplete penetrance). Cats with this gene have ears that curl forward. There are ...
*  Maturity onset diabetes of the young
... penetrance differs between the types (from 40% to 90%). By definition, the forms of MODY are autosomal dominant, requiring only ...
*  Human genetics
Partial penetrance can be shown and calculated from pedigrees. Penetrance is the percentage expressed frequency with which ...
*  Expressivity (genetics)
wild type) expressivity and penetrance are the same. The term is analogous to the severity of a condition in clinical medicine ... Allele Anticipation Penetrance Pleiotropy Mendelian inheritance Genetic heterogeneity Haploinsufficiency Le, Tao (2010). First ... This differs from penetrance, the term that measures how often a gene generates its associated phenotype to any extent that ... penetrance. Variable expressivity occurs when a phenotype is expressed to a different degree among individuals with the same ...
*  Generalized epilepsy with febrile seizures plus
Penetrance for this disorder is estimated at approximately 60%. Individuals with GEFS+ present with a range of epilepsy ...
*  Malignant hyperthermia
... 's inheritance is autosomal dominant with variable penetrance. The defect is typically located on the ...
*  Hereditary multiple exostoses
Other studies have observed both incomplete and variable penetrance but without calculating the % penetrance, e.g. In both the ... HME has a 96% penetrance, which means that if the affected gene is indeed transmitted to a child, the child will have a 96% of ... Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M (July 1997). "Incomplete penetrance and expressivity skewing in hereditary ... It should be noted that the 96% penetrance figure comes from one study. ...
*  Spasmodic torticollis
These loci are all autosomal dominantly inherited with reduced penetrance. Although these loci have been found, it is still not ...
*  Distal 18q-
The penetrance figure represents the likelihood a person would have the feature given the critical region is deleted. ... The table below shows the established critical regions for four features of distal 18q-, as well as the penetrance for each of ... July 2009). "Narrowing critical regions and determining penetrance for selected 18q- phenotypes". Am. J. Med. Genet. A. 149A (7 ...
*  Candidate gene
This can be due to variation in penetrance and expressivity. For most human diseases, variable expressivity of the disease ...
*  CDKN2A
"Geographical variation in the penetrance of CDKN2A mutations for melanoma". Journal of the National Cancer Institute. 94 (12): ...
*  Vitelliform macular dystrophy
This is because the penetrance of the condition is incomplete; therefore, it is possible for an individual to have a copy of ...