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PSENEN

Synonyms
ACNINV2, MDS033, MSTP064, PEN-2, PEN2
External resources
Summary
Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
113
Likely pathogenic
0
VUS
432
Likely benign
1,055
Benign
420

Patient Phenotypes

Proportions of phenotypes among 113 patients carrying pathogenic or likely pathogenic variants on PSENEN gene are displayed below. The following symptoms were found in patients with a variant in PSENEN. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.6%
Abnormality of the cardiovascular system
24.8%
Abnormality of the musculoskeletal system
20.4%
Abnormality of the ear
19.5%
Abnormality of head or neck
17.7%
Abnormality of metabolism homeostasis
10.6%
Abnormality of the genitourinary system
10.6%
Growth abnormality
9.7%
Abnormality of blood and blood forming tissues
6.2%
Abnormality of limbs
6.2%
Abnormality of the digestive system
6.2%
Abnormality of the eye
6.2%
Abnormality of the integument
5.3%
Abnormality of the immune system
3.5%
Abnormality of the endocrine system
2.7%
Abnormality of the respiratory system
1.8%
Neoplasm
1.8%
Abnormality of prenatal development or birth
0.9%
Abnormality of the breast
0.9%
Constitutional symptom
0.9%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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