PEX6 c.1314_1321del ;(p.E439Gfs*3)

Variant ID: 6-42937451-AAGGCCTCC-A

NM_000287.3(PEX6):c.1314_1321del;(p.E439Gfs*3)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency.

Frontiers In Pediatrics
Fazi, C C; Lodi, L L; Magi, L L; Canessa, C C; Giovannini, M M; Pelosi, C C; Pochiero, F F; Procopio, E E; Donati, M A MA; Azzari, C C; Ricci, S S
Publication Date: 2022

Variant appearance in text: PEX6: 1314_1321delGGAGGCCT; Glu439Glyfs
PubMed Link: 35402347
Variant Present in the following documents:
  • Main text
  • fped-10-852943.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: PEX6: 1314_1321del
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy.

Annals Of Indian Academy Of Neurology
Gupta, Priyanka P; Anne, Rajendra Prasad RP; Deshabhotla, Sai Kiran SK; Nerakh, Gayatri G
Publication Date: 2021

Variant appearance in text: PEX6: 1314_1321del
PubMed Link: 35002136
Variant Present in the following documents:
  • AIAN-24-759.pdf
View BVdb publication page



NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Human Genetics
Perea-Romero, I I; Blanco-Kelly, F F; Sanchez-Navarro, I I; Lorda-Sanchez, I I; Tahsin-Swafiri, S S; Avila-Fernandez, A A; Martin-Merida, I I; Trujillo-Tiebas, M J MJ; Lopez-Rodriguez, R R; Rodriguez de Alba, M M; Iancu, I F IF; Romero, R R; Quinodoz, M M; Hakonarson, H H; Garcia-Sandova, Blanca B; Minguez, P P; Corton, M M; Rivolta, C C; Ayuso, C C
Publication Date: 2021-12

Variant appearance in text: PEX6: 1314_1321del; Glu439Glyfs*3
PubMed Link: 34448047
Variant Present in the following documents:
  • 439_2021_2343_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Daich Varela, Malena M; Jani, Priyam P; Zein, Wadih M WM; D'Souza, Precilla P; Wolfe, Lynne L; Chisholm, Jennifer J; Zalewski, Christopher C; Adams, David D; Warner, Blake M BM; Huryn, Laryssa A LA; Hufnagel, Robert B RB
Publication Date: 2020-09

Variant appearance in text: PEX6: 1314_1321del; Glu439Glyfs*3
PubMed Link: 32866347
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: PEX6: 1314_1321delGGAGGCCT
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page



Expanding the clinical and genetic spectrum of Heimler syndrome.

Orphanet Journal Of Rare Diseases
Gao, Feng-Juan FJ; Hu, Fang-Yuan FY; Xu, Ping P; Qi, Yu-He YH; Li, Jian-Kang JK; Zhang, Yong-Jin YJ; Chen, Fang F; Chang, Qing Q; Song, Fang F; Shen, Si-Mai SM; Xu, Ge-Zhi GZ; Wu, Ji-Hong JH
Publication Date: 2019-12-12

Variant appearance in text: PEX6: 1314_1321delGGAGGCCT
PubMed Link: 31831025
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1243.pdf
View BVdb publication page



Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

European Journal Of Human Genetics : Ejhg
Smith, Claire E L CE; Poulter, James A JA; Levin, Alex V AV; Capasso, Jenina E JE; Price, Susan S; Ben-Yosef, Tamar T; Sharony, Reuven R; Newman, William G WG; Shore, Roger C RC; Brookes, Steven J SJ; Mighell, Alan J AJ; Inglehearn, Chris F CF
Publication Date: 2016-11

Variant appearance in text: PEX6: 1314_1321delGGAGGCCT; E439Gfs*3
PubMed Link: 27302843
Variant Present in the following documents:
  • Main text
  • ejhg201662a.pdf
View BVdb publication page



Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

Orphanet Journal Of Rare Diseases
Berendse, Kevin K; Ebberink, Merel S MS; Ijlst, Lodewijk L; Poll-The, Bwee Tien BT; Wanders, Ronald J A RJ; Waterham, Hans R HR
Publication Date: 2013-09-09

Variant appearance in text: PEX6: 1314_1321delGGAGGCCT
PubMed Link: 24016303
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-138.pdf
View BVdb publication page



Rational diagnostic strategy for Zellweger syndrome spectrum patients.

European Journal Of Human Genetics : Ejhg
Krause, Cindy C; Rosewich, Hendrik H; Gärtner, Jutta J
Publication Date: 2009-06

Variant appearance in text: PEX6: 1314_1321delGGAGGCCT; E439GfsX3
PubMed Link: 19142205
Variant Present in the following documents:
  • Main text
View BVdb publication page