Incomplete Penetrance: Causes & Reasons

Possible Causes for Incomplete Penetrance

Familial Congenital Mirror Movements Type 2

penetrance 0003829 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Percent [rarediseases.info.nih.gov]

Transmission of MMs was consistent with an autosomal-dominant fashion with incomplete penetrance. [movementdisorders.org]

[…] learning disability 0001328 1%-4% of people have these symptoms Cerebral palsy 0100021 Fused cervical vertebrae Fused neck 0002949 Hypogonadotrophic hypogonadism 0000044 Incomplete [rarediseases.info.nih.gov]

Autosomal Dominant Prognathism

Current genetic inheritance patterns proposed for the Class III malocclusion include autosomal-recessive, autosomaldominant, autosomal-dominant with incomplete penetrance, [eurekaselect.com]

penetrance and variable expressivity. [eurekaselect.com]

[…] explained by the presence of a dominant major gene with an autosomal Mendelian mode of transmission that is affected by other genes and environmental factors leading to incomplete [eurekaselect.com]

Hip Dysplasia Type Beukes

This called incomplete penetrance. [diabetes.medicclub.info]

But since the condition has incomplete penetrance and there is a range in severity of symptoms, it is difficult to predict how the mutation in the UFSP2 gene will affect a [diabetes.medicclub.info]

Generalized Epilepsy with Febrile Seizures Plus

A genomewide search, under the assumption of incomplete penetrance at 85% and a phenocopy rate of 5%, permitted identification of a new locus on chromosome 2q21-q33. [ncbi.nlm.nih.gov]

GEFS+ is inherited in an autosomal dominant manner, although the condition is characterized by incomplete penetrance, with only 60% to 80% of patients known to carry a pathogenic [crd.york.ac.uk]

Hirschsprung Disease Type D-Brachydactyly Syndrome

Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.Visit the Orphanet disease page [malacards.org]

The pattern of inheritance was consistent with X-linked recessive inheritance; however, autosomal dominant inheritance with incomplete penetrance in females or multifactorial [pediatrics.aappublications.org]

Genetic counseling Genetic counseling is difficult because HSCR is a polygenic disorder with incomplete penetrance and variable expressivity. [orpha.net]

Hereditary Multiple Exostoses

Whether this incomplete penetrance is associated with one of the disease genes recently identified in EXT is currently under investigation. [ncbi.nlm.nih.gov]

[…] sex‐ratio with a preponderance of males among probands in this series (103: 72, p < 0.02) and in all series reported to date (198: 133, p < 0.001) gives support to the variable penetrance [doi.org]

In addition, since previous studies have suggested that there are deviations from Mendelian expectations in EXT, including incomplete penetrance and a skewed sex ratio, we [scholars.northwestern.edu]

Leber's Hereditary Optic Neuropathy

It is characterized by incomplete penetrance, as only some mutation carriers become affected. [ncbi.nlm.nih.gov]

It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance. [ncbi.nlm.nih.gov]

Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional [ncbi.nlm.nih.gov]

Mayer-Rokitansky-Küster-Hauser Syndrome

penetrance and variable expressivity. [orpha.net]

The syndrome appears to demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance and variable expressivity. [ncbi.nlm.nih.gov]

Genetic counseling MRKH syndrome was thought to be purely sporadic but familial cases seem to be inherited autosomal dominantly with incomplete penetrance and variable expressivity [orpha.net]

Branchio-Oculo-Facial Syndrome

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from [ncbi.nlm.nih.gov]

Abstract Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging [pubmed.ncbi.nlm.nih.gov]

penetrance. [en.wikipedia.org]

Hereditary Optic Atrophy

penetrance. [ncbi.nlm.nih.gov]

There is incomplete penetrance, with only approximately 50% of the males and 10% of the females carrying a pathogenic mtDNA mutation actually developing the optic neuropathy [snpedia.com]

Many, if not most, cases with no family history are due to incomplete penetrance rather than new mutation [ 2 ]. [patient.info]

Non-Syndromic Tibial Hemimelia

Inheritance was consistent with an autosomal dominant pattern with incomplete penetrance and variable expressivity. [bio2rdf.org]

A family history has been reported in a small percentage of cases with an autosomal dominant pattern of inheritance and incomplete penetrance. [dysnet.org]

penetrant E Pardono, JF Mazzeu, K Lezirovitz, MT Auricchio, P Iughetti, ... [scholar.google.pl]

Retinitis Pigmentosa 11

penetrance in retinitis pigmentosa. [aravindachakravartilab.org]

Disease penetrance correlates with population frequencies of MSR1 alleles To further investigate the role of MSR1 in the incomplete penetrance of PRPF31 -associated adRP, [nature.com]

We undertook mutation screening in the PRPF31 gene that is well reported to be linked with ADRP with incomplete penetrance. [ashg.org]

Epidermolysis Bullosa Pruriginosa

Incomplete penetrance is confirmed in her clinically unaffected mother, who carries the same dominant mutation. [ncbi.nlm.nih.gov]

Rede de Informação e Conhecimento An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa [pesquisa.bvsalud.org]

Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants. [ncbi.nlm.nih.gov]

Hand-Foot-Genital Syndrome

penetrant genitourinary defects including incomplete Müllerian fusion in females and hypospadias in males. [oxfordindex.oup.com]

The limb abnormalities are reported to be fully penetrant, bilateral, and symmetrical, whereas the genitourinary abnormalities are incompletely penetrant and variably severe [link.springer.com]

Hand-foot-genital syndrome (HFGS), which is characterized by symmetric preaxial deficiency of the hands and feet, second and fifth finger clinodactyly, and frequent but incompletely [oxfordindex.oup.com]

Popliteal Pterygium Syndrome

It has incomplete penetrance and extreme phenotypic variability that leads to difficulty in diagnosis. [ncbi.nlm.nih.gov]

The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity. [ncbi.nlm.nih.gov]

penetrance and variable expressivity. [clinmedjournals.org]

Hereditary Leiomyomatosis and Renal Cell Cancer

penetrance and clinically challenging to diagnose. [ncbi.nlm.nih.gov]

penetrance, and clinically challenging to diagnose. [ncbi.nlm.nih.gov]

Due to the incomplete penetrance of HLRCC, the authors propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 years of age or when renal [ncbi.nlm.nih.gov]

Cutis Marmorata Telangiectatica Congenita

Teratogens and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiological factors. Prognosis, in uncomplicated cases, is good. [ncbi.nlm.nih.gov]

Teratogens and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiologies.[4] Some authors suggest that lethal gene hypothesis (i.e [journals.lww.com]

Diomedi-Bernardi-Placidi Syndrome

penetrance In autosomal dominant inheritance with incomplete penetrance, an individual may not develop symptoms even when he/she is carrying a defective gene copy in each [dovemed.com]

This disorder is an autosomal dominant trait with incomplete penetrance and variable expressivity. [ncbi.nlm.nih.gov]

[…] underlying cause of Diomedi-Bernardi-Placidi Syndrome is currently unknown Published literature states that the disorder is inherited in an autosomal dominant manner, with incomplete [dovemed.com]

Long QT Syndrome 5

The concealed cases fall under the heading of a more general phenomenon of incomplete penetrance of all genetic disorders of the ion channels, while standing for a difficult [romanianjournalcardiology.ro]

For example, in LQTS a genetic mutation may exhibit incomplete penetrance.51 Similarly, certain mutations may have variable expressivity, conferring different risk of disease [ahajournals.org]

Hereditary Pancreatitis

Hereditary pancreatitis is characterized by an autosomal-dominant mode of inheritance with incomplete penetrance, onset of symptoms in childhood or early adolescence (mean [ncbi.nlm.nih.gov]

Abstract Hereditary pancreatitis is an autosomal dominant disease with incomplete penetrance (80%), accounting for approximately 1% of all cases of pancreatitis. [ncbi.nlm.nih.gov]

It is inherited as an autosomal dominant disease, with incomplete penetrance. The genetic defect is believed to be caused by mutations in the trypsinogen gene. [ncbi.nlm.nih.gov]

Carney-Stratakis Syndrome

Genetic counseling Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance. [orpha.net]

Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. [uniprot.org]

CSS has autosomal dominant inheritance, incomplete penetrance, and greater relative frequency of PGL over GISTs. [pubmed.ncbi.nlm.nih.gov]

Supernumerary Nipples

They exhibit an autosomal dominant pattern of inheritance with incomplete penetrance. [dermnetnz.org]

The genetic transmission of polythelia appears to be heterogeneous and the most common modes are: autosomal dominant with incomplete penetrance and a dominant X-linked chromosome [colombiamedica.univalle.edu.co]

Hypokalemic Periodic Paralysis

Incomplete penetrance in women with Arg672Cys mutation was evident. [ncbi.nlm.nih.gov]

RESULTS: Two FPP families had the R528H point mutation, but with incomplete penetrance occurring more commonly in men than in women. [ncbi.nlm.nih.gov]

Genetic counseling HypoPP is transmitted as an autosomal dominant disease with incomplete penetrance, especially in females. [orpha.net]

Lymphatic Malformation

Three multigeneration families demonstrating the phenotype of hereditary lymphedema segregating as an autosomal dominant trait with incomplete penetrance were genotyped for [ncbi.nlm.nih.gov]

This incomplete penetrance might appear as a “skipped generation” in some families. [lymphnotes.com]

Hereditary lymphedema generally shows an autosomal dominant pattern of inheritance with reduced penetrance, variable expression and variable age at onset. [ncbi.nlm.nih.gov]

Familial Pulmonary Arterial Hypertension

The underlying factors of the incomplete penetrance are yet unknown [ 20 ]. [journals.plos.org]

Familial cases of PAH are usually recognized as an autosomal dominant disease, but incomplete penetrance of the disease makes it difficult to identify pathogenic variants [bmcpulmmed.biomedcentral.com]

This is called incomplete penetrence. [pulmonaryhypertensionrn.com]

Isolated Partial Vaginal Agenesis

penetrance and variable expressivity. [orpha.net]

Incomplete penetrance means that some individuals who inherit the gene for a dominant disorder will not be affected by the disorder. [rarediseases.org]

Genetic counseling MRKH syndrome (type 1 or type 2) was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete [orpha.net]

Paroxysmal Non-Kinesigenic Dyskinesia

Incomplete penetrance and intrafamilial variability was detected in both families. Treatment with valproic acid and levetiracetam provided favorable response. [ncbi.nlm.nih.gov]

penetrance and variable response to alcohol DYT-16 PRKRA 2q31.2 dystonia parkinsonism syndrome Autosomal Recessive Progressive, generalised, early-onset dystonia with axial [cmdg.org]

Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. [jmedicalcasereports.biomedcentral.com]

Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome

Type II BPES is characterized by incomplete penetrance and transmission by both males and females. [eyerounds.org]

The two entities are further differentiated by incomplete penetrance in BPES Type II only, and by difference in the sex ratios of affected children. [accesspediatrics.mhmedical.com]

Type I BPES is characterized by complete penetrance and transmission almost exclusively through males (because of impaired female fertility). [eyerounds.org]

Tumor Necrosis Factor Receptor 1-associated Periodic Syndrome

However, the incomplete penetrance and genetic heterogeneity have been reported in this syndrome. [ncbi.nlm.nih.gov]

But some mutations have incomplete penetrance. This means that some people who inherit a mutated copy of the gene do not develop disease. [amyloidosis.org.uk]

Metachondromatosis

Metachondromatosis is an autosomal dominant [1] incompletely penetrant [2] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas [ipfs.io]

Metachondromatosis is an autosomal dominant, [2] incompletely penetrant[3] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas [en.wikipedia.org]

Abstract Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. [ncbi.nlm.nih.gov]