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| Incidentalome v0.229 | PSEN2 |
Sangavi Sivagnanasundram changed review comment from: Well established rare cause of Alzheimer Disease. PMID: 10652366: In vitro functional assay shows that a mutation in the PSEN2 gene causes an effect to the endoproteolytic processing of the transmembrane protein thus a loss of function to the transmembrane protein. PMID: 7638622: (Article refers to gene in previously terminology of STM2) N141I founder mutation was identified in 20 individuals from 5 Volgan German families. The point mutation is present in the conserved human and mouse homolog (S182). PMID: 12925374: A spanish individual identified with a T430M mutation (a common variant reported in the Latino/Admixed American population but at a low frequency [PopMax AF 0.01%]).; to: Well established rare cause of Alzheimer Disease. PMID: 10652366: In vitro functional assay shows that a mutation in the PSEN2 gene causes an effect to the endoproteolytic processing of the transmembrane protein thus a loss of function to the transmembrane protein. PMID: 7638622: (Article refers to gene in previously terminology of STM2) N141I founder mutation was identified in 20 individuals from 5 Volgan German families. The point mutation is present in the conserved human and mouse homolog (S182). PMID: 12925374: A spanish individual identified with a T430M mutation (a common variant reported in the Latino/Admixed American population but at a low frequency [PopMax AF 0.01%]). |
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| Incidentalome v0.229 | PSEN2 | Sangavi Sivagnanasundram reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10652366, 7638622, 7651536, 12925374; Phenotypes: Alzheimer Disease type 4 (MONDO:0011743, MIM#606889); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.0 | PSEN2 |
Zornitza Stark gene: PSEN2 was added gene: PSEN2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PSEN2 was set to Unknown |
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