PACS1 c.607C>T ;(p.R203W)

Variant ID: 11-65978677-C-T

NM_018026.3(PACS1):c.607C>T;(p.R203W)

This variant was identified in 64 publications

View GRCh38 version.




Publications:


Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment.

International Journal Of Molecular Sciences
Larizza, Lidia L; Cubellis, Maria Vittoria MV
Publication Date: 2023-05-22

Variant appearance in text: PACS1: 607C>T; R203W
PubMed Link: 37240412
Variant Present in the following documents:
  • Main text
  • ijms-24-09064.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



RNA-targeted therapy corrects neuronal deficits in PACS1 syndrome mice.

Research Square
Thomas, Gary G; Villar-Pazos, Sabrina S; Thomas, Laurel L; Yang, Yunhan Y; Chen, Kun K; Lyles, Jenea J; Deitch, Bradley B; Ochaba, Joseph J; Ling, Karen K; Powers, Berit B; Gingras, Sebastien S; Kordasiewicz, Holly H; Grubisha, Melanie M; Huang, Yanhua Y
Publication Date: 2023-01-27

Variant appearance in text: PACS1: R203W
PubMed Link: 36747781
Variant Present in the following documents:
  • nihpp-rs2440581v1.pdf
View BVdb publication page



Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.

Healthcare (Basel, Switzerland)
Lai, Theodora Hei Tung THT; Au, Leung Kuen Sandy LKS; Lau, Yuen Ting Eunice YTE; Lo, Hei Man HM; Chan, Kelvin Yuen Kwong KYK; Cheung, Ka Wang KW; Ma, Teresa Wei Ling TWL; Leung, Wing Cheong WC; Kong, Choi Wah CW; Shu, Wendy W; So, Po Lam PL; Kwong, Anna Ka Yee AKY; Mak, Christopher Chun Yu CCY; Lee, Mianne M; Chui, Martin Man Chun MMC; Chung, Brian Hon Yin BHY; Kan, Anita Sik Yau ASY
Publication Date: 2022-12-13

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 36554045
Variant Present in the following documents:
  • healthcare-10-02521.pdf
View BVdb publication page



A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report.

Cureus
Lucena, Pedro H PH; Nonaka, Carolina C; Armani-Franceschi, Giulia G; Carneiro, Pedro P; Sales, Henrique H; Lucena, Mariana M; Bandeira, Igor D ID; Solano, Bruno B; Lucena, Rita R
Publication Date: 2022-10

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 36415352
Variant Present in the following documents:
  • Main text
  • cureus-0014-00000030486.pdf
View BVdb publication page



Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.

American Journal Of Medical Genetics. Part A
Bruno, Lucia Pia LP; Doddato, Gabriella G; Baldassarri, Margherita M; Rizzo, Caterina Lo CL; Resciniti, Sara S; Bruttini, Mirella M; Mirjam, Lista L; Zguro, Kristina K; Furini, Simone S; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2022-10-09

Variant appearance in text: PACS1: 607C>T; Arg203Trp; rs398123009
PubMed Link: 36210549
Variant Present in the following documents:
  • Main text
  • AJMG-191-284.pdf
View BVdb publication page



The Phosphofurin Acidic Cluster Sorting Protein 2 (PACS-2) E209K Mutation Responsible for PACS-2 Syndrome Increases Susceptibility to Apoptosis.

Acs Omega
Zang, Rong Xuan RX; Mumby, Mitchell J MJ; Dikeakos, Jimmy D JD
Publication Date: 2022-09-27

Variant appearance in text: PACS1: R203W
PubMed Link: 36188273
Variant Present in the following documents:
  • ao2c04014.pdf
View BVdb publication page



The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg
van der Sanden, Bart P G H BPGH; Schobers, Gaby G; Corominas Galbany, Jordi J; Koolen, David A DA; Sinnema, Margje M; van Reeuwijk, Jeroen J; Stumpel, Connie T R M CTRM; Kleefstra, Tjitske T; de Vries, Bert B A BBA; Ruiterkamp-Versteeg, Martina M; Leijsten, Nico N; Kwint, Michael M; Derks, Ronny R; Swinkels, Hilde H; den Ouden, Amber A; Pfundt, Rolph R; Rinne, Tuula T; de Leeuw, Nicole N; Stegmann, Alexander P AP; Stevens, Servi J SJ; van den Wijngaard, Arthur A; Brunner, Han G HG; Yntema, Helger G HG; Gilissen, Christian C; Nelen, Marcel R MR; Vissers, Lisenka E L M LELM
Publication Date: 2022-09-16

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 36114283
Variant Present in the following documents:
  • 41431_2022_Article_1185.pdf
View BVdb publication page



Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.

International Journal Of Molecular Sciences
Arnedo, María M; Ascaso, Ángela Á; Latorre-Pellicer, Ana A; Lucia-Campos, Cristina C; Gil-Salvador, Marta M; Ayerza-Casas, Ariadna A; Pablo, María Jesús MJ; Gómez-Puertas, Paulino P; Ramos, Feliciano J FJ; Bueno-Lozano, Gloria G; Pié, Juan J; Puisac, Beatriz B
Publication Date: 2022-08-25

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 36077045
Variant Present in the following documents:
  • Main text
  • ijms-23-09649.pdf
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: PACS1: 607C>T; R203W
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM6_ESM.xlsx, sheet 1
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: rs398123009
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.

Genes
Leduc-Pessah, Heather H; White-Brown, Alexandre A; Hartley, Taila T; Pohl, Daniela D; Dyment, David A DA
Publication Date: 2022-05-13

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 35627257
Variant Present in the following documents:
  • Main text
  • genes-13-00872.pdf
View BVdb publication page



Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

Hgg Advances
French, Courtney E CE; Dolling, Helen H; Mégy, Karyn K; Sanchis-Juan, Alba A; Kumar, Ajay A; Delon, Isabelle I; Wakeling, Matthew M; Mallin, Lucy L; Agrawal, Shruti S; Austin, Topun T; Walston, Florence F; Park, Soo-Mi SM; Parker, Alasdair A; Piyasena, Chinthika C; Bradbury, Kimberley K; , ; Ellard, Sian S; Rowitch, David H DH; Raymond, F Lucy FL
Publication Date: 2022-07-14

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 35586607
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 4
View BVdb publication page



Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)
Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL
Publication Date: 2022-03-26

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 35346031
Variant Present in the following documents:
  • 10020_2022_464_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2022-03-04

Variant appearance in text: PACS1: 607C>T
PubMed Link: 35246524
Variant Present in the following documents:
  • 41467_2022_28648_MOESM2_ESM.pdf
  • 41467_2022_28648_MOESM1_ESM.pdf
View BVdb publication page



New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

International Journal Of Molecular Sciences
Bruno, Lucia Pia LP; Doddato, Gabriella G; Valentino, Floriana F; Baldassarri, Margherita M; Tita, Rossella R; Fallerini, Chiara C; Bruttini, Mirella M; Lo Rizzo, Caterina C; Mencarelli, Maria Antonietta MA; Mari, Francesca F; Pinto, Anna Maria AM; Fava, Francesca F; Fabbiani, Alessandra A; Lamacchia, Vittoria V; Carrer, Anna A; Caputo, Valentina V; Granata, Stefania S; Benetti, Elisa E; Zguro, Kristina K; Furini, Simone S; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2021-12-14

Variant appearance in text: PACS1: 607C>T; Arg203Trp; rs398123009
PubMed Link: 34948243
Variant Present in the following documents:
  • Main text
  • ijms-22-13439.pdf
View BVdb publication page



New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

International Journal Of Molecular Sciences
Bruno, Lucia Pia LP; Doddato, Gabriella G; Valentino, Floriana F; Baldassarri, Margherita M; Tita, Rossella R; Fallerini, Chiara C; Bruttini, Mirella M; Lo Rizzo, Caterina C; Mencarelli, Maria Antonietta MA; Mari, Francesca F; Pinto, Anna Maria AM; Fava, Francesca F; Fabbiani, Alessandra A; Lamacchia, Vittoria V; Carrer, Anna A; Caputo, Valentina V; Granata, Stefania S; Benetti, Elisa E; Zguro, Kristina K; Furini, Simone S; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2021-12-14

Variant appearance in text: PACS1: 607C>T; Arg203Trp; rs398123009
PubMed Link: 34948243
Variant Present in the following documents:
  • Main text
  • ijms-22-13439.pdf
View BVdb publication page



Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21

Variant appearance in text: PACS1: R203W; rs398123009
PubMed Link: 34802461
Variant Present in the following documents:
  • 40246_2021_368_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Systematic Review and Bioinformatic Analysis of microRNA Expression in Autism Spectrum Disorder Identifies Pathways Associated With Cancer, Metabolism, Cell Signaling, and Cell Adhesion.

Frontiers In Psychiatry
Huang, Zhi-Xiong ZX; Chen, Yanhui Y; Guo, Hong-Ru HR; Chen, Guo-Feng GF
Publication Date: 2021

Variant appearance in text: PACS1: Arg203Trp
PubMed Link: 34744804
Variant Present in the following documents:
  • Table_4.xlsx, sheet 2
View BVdb publication page



Schuurs-Hoeijmakers syndrome in a patient from Iraq - Kirkuk.

Clinical Case Reports
Abdulqader, Sahar Adnan SA; Wli, Wafaa Abdulqader WA; Qaryaqos, Samer Habeeb SH
Publication Date: 2021-10

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 34631081
Variant Present in the following documents:
  • Main text
  • CCR3-9-e04897.pdf
View BVdb publication page



PACS1-Neurodevelopmental disorder: clinical features and trial readiness.

Orphanet Journal Of Rare Diseases
Van Nuland, Abigail A; Reddy, Taruna T; Quassem, Farhad F; Vassalli, Jean-Dominique JD; Berg, Anne T AT
Publication Date: 2021-09-13

Variant appearance in text: PACS1: R203W
PubMed Link: 34517877
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2001.pdf
View BVdb publication page



A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum.

Frontiers In Genetics
Liu, Yuan Y; Ding, Hongke H; Yan, Tizhen T; Liu, Ling L; Yu, Lihua L; Huang, Yanlin Y; Li, Fake F; Zeng, Yukun Y; Huang, Weiwei W; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2021

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 34373684
Variant Present in the following documents:
  • Main text
  • fgene-12-690216.pdf
View BVdb publication page



Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Plos Genetics
Audain, Enrique E; Wilsdon, Anna A; Breckpot, Jeroen J; Izarzugaza, Jose M G JMG; Fitzgerald, Tomas W TW; Kahlert, Anne-Karin AK; Sifrim, Alejandro A; Wünnemann, Florian F; Perez-Riverol, Yasset Y; Abdul-Khaliq, Hashim H; Bak, Mads M; Bassett, Anne S AS; Benson, D Woodrow DW; Berger, Felix F; Daehnert, Ingo I; Devriendt, Koenraad K; Dittrich, Sven S; Daubeney, Piers Ef PE; Garg, Vidu V; Hackmann, Karl K; Hoff, Kirstin K; Hofmann, Philipp P; Dombrowsky, Gregor G; Pickardt, Thomas T; Bauer, Ulrike U; Keavney, Bernard D BD; Klaassen, Sabine S; Kramer, Hans-Heiner HH; Marshall, Christian R CR; Milewicz, Dianna M DM; Lemaire, Scott S; Coselli, Joseph S JS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A; Prakash, Siddharth K SK; Stamm, Karl K; Stewart, Alexandre F R AFR; Silversides, Candice K CK; Siebert, Reiner R; Stiller, Brigitte B; Rosenfeld, Jill A JA; Vater, Inga I; Postma, Alex V AV; Caliebe, Almuth A; Brook, J David JD; Andelfinger, Gregor G; Hurles, Matthew E ME; Thienpont, Bernard B; Larsen, Lars Allan LA; Hitz, Marc-Phillip MP
Publication Date: 2021-07

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 34324492
Variant Present in the following documents:
  • pgen.1009679.s019.xlsx, sheet 3
View BVdb publication page



Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

Genes
Tenorio-Castaño, Jair J; Morte, Beatriz B; Nevado, Julián J; Martinez-Glez, Víctor V; Santos-Simarro, Fernando F; García-Miñaúr, Sixto S; Palomares-Bralo, María M; Pacio-Míguez, Marta M; Gómez, Beatriz B; Arias, Pedro P; Alcochea, Alba A; Carrión, Juan J; Arias, Patricia P; Almoguera, Berta B; López-Grondona, Fermina F; Lorda-Sanchez, Isabel I; Galán-Gómez, Enrique E; Valenzuela, Irene I; Méndez Perez, María Pilar MP; Cuscó, Ivón I; Barros, Francisco F; Pié, Juan J; Ramos, Sergio S; Ramos, Feliciano J FJ; Kuechler, Alma A; Tizzano, Eduardo E; Ayuso, Carmen C; Kaiser, Frank J FJ; Pérez-Jurado, Luis A LA; Carracedo, Ángel Á; The ENoD-Ciberer Consortium, ; The Side Consortium, ; Lapunzina, Pablo P
Publication Date: 2021-05-13

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 34068396
Variant Present in the following documents:
  • Main text
  • genes-12-00738.pdf
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: PACS1: 607C>T; R203W; rs398123009
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: PACS1: R203W
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
View BVdb publication page



Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 33726816
Variant Present in the following documents:
  • 13073_2021_855_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.

Journal Of Personalized Medicine
Hong, Syuan-Yu SY; Yang, Jiann-Jou JJ; Li, Shuan-Yow SY; Lee, Inn-Chi IC
Publication Date: 2020-12-15

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 33333793
Variant Present in the following documents:
  • Main text
  • jpm-10-00281.pdf
View BVdb publication page



A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.

Npj Genomic Medicine
Fung, Jasmine L F JLF; Yu, Mullin H C MHC; Huang, Shushu S; Chung, Claudia C Y CCY; Chan, Marcus C Y MCY; Pajusalu, Sander S; Mak, Christopher C Y CCY; Hui, Vivian C C VCC; Tsang, Mandy H Y MHY; Yeung, Kit San KS; Lek, Monkol M; Chung, Brian H Y BHY
Publication Date: 2020

Variant appearance in text: PACS1: Arg203Trp
PubMed Link: 32963807
Variant Present in the following documents:
  • Main text
  • 41525_2020_144_MOESM1_ESM.pdf
  • 41525_2020_Article_144.pdf
View BVdb publication page



Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype.

Molecular Syndromology
Kurt Colak, Fatma F; Eyerci, Nilnur N; Aytekin, Caner C; Eksioglu, Ayse S AS
Publication Date: 2020-07

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 32903913
Variant Present in the following documents:
  • Main text
View BVdb publication page



A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ganesan, Shiva S; Galer, Peter D PD; Helbig, Katherine L KL; McKeown, Sarah E SE; O'Brien, Margaret M; Gonzalez, Alexander K AK; Felmeister, Alex S AS; Khankhanian, Pouya P; Ellis, Colin A CA; Helbig, Ingo I
Publication Date: 2020-12

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 32773773
Variant Present in the following documents:
  • 41436_2020_923_MOESM3_ESM.xls, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PACS1: R203W
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One
Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R
Publication Date: 2020

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 32315351
Variant Present in the following documents:
  • pone.0231728.s001.pdf
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Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

Experimental Eye Research
George, Aman A; Cogliati, Tiziana T; Brooks, Brian P BP
Publication Date: 2020-04

Variant appearance in text: PACS1: 607C>T
PubMed Link: 32032630
Variant Present in the following documents:
  • Main text
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The multifunctional protein PACS-1 is required for HDAC2- and HDAC3-dependent chromatin maturation and genomic stability.

Oncogene
Mani, Chinnadurai C; Tripathi, Kaushlendra K; Luan, Shan S; Clark, David W DW; Andrews, Joel F JF; Vindigni, Alessandro A; Thomas, Gary G; Palle, Komaraiah K
Publication Date: 2020-03

Variant appearance in text: PACS1: R203W
PubMed Link: 31988453
Variant Present in the following documents:
  • nihms-1549989.pdf
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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Gubbels, Cynthia S CS; VanNoy, Grace E GE; Madden, Jill A JA; Copenheaver, Deborah D; Yang, Sandra S; Wojcik, Monica H MH; Gold, Nina B NB; Genetti, Casie A CA; Stoler, Joan J; Parad, Richard B RB; Roumiantsev, Sergei S; Bodamer, Olaf O; Beggs, Alan H AH; Juusola, Jane J; Agrawal, Pankaj B PB; Yu, Timothy W TW
Publication Date: 2020-04

Variant appearance in text: PACS1: 607C>T; R203W
PubMed Link: 31780822
Variant Present in the following documents:
  • Main text
View BVdb publication page



Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.xlsx, sheet 1
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Fetal phenotypes emerge as genetic technologies become robust.

Prenatal Diagnosis
Gray, Kathryn J KJ; Wilkins-Haug, Louise E LE; Herrig, Nancy J NJ; Vora, Neeta L NL
Publication Date: 2019-08

Variant appearance in text: PACS1: 607C>T
PubMed Link: 31330568
Variant Present in the following documents:
  • Main text
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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Cold Spring Harbor Molecular Case Studies
Ji, Jianling J; Shen, Lishuang L; Bootwalla, Moiz M; Quindipan, Catherine C; Tatarinova, Tatiana T; Maglinte, Dennis T DT; Buckley, Jonathan J; Raca, Gordana G; Saitta, Sulagna C SC; Biegel, Jaclyn A JA; Gai, Xiaowu X
Publication Date: 2019-04

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 30755392
Variant Present in the following documents:
  • Main text
  • supp_mcs.a003756_Supplemental_Table_1.xlsx, sheet 1
  • MCS003756Ji.pdf
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Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.

Nature Neuroscience
Schafer, Simon T ST; Paquola, Apua C M ACM; Stern, Shani S; Gosselin, David D; Ku, Manching M; Pena, Monique M; Kuret, Thomas J M TJM; Liyanage, Marvin M; Mansour, Abed AlFatah AA; Jaeger, Baptiste N BN; Marchetto, Maria C MC; Glass, Christopher K CK; Mertens, Jerome J; Gage, Fred H FH
Publication Date: 2019-02

Variant appearance in text: PACS1: Arg203Trp
PubMed Link: 30617258
Variant Present in the following documents:
  • NIHMS1512664-supplement-Sup_Table_5.xlsx, sheet 1
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Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
van der Donk, Roos R; Jansen, Sandra S; Schuurs-Hoeijmakers, Janneke H M JHM; Koolen, David A DA; Goltstein, Lia C M J LCMJ; Hoischen, Alexander A; Brunner, Han G HG; Kemmeren, Patrick P; Nellåker, Christoffer C; Vissers, Lisenka E L M LELM; de Vries, Bert B A BBA; Hehir-Kwa, Jayne Y JY
Publication Date: 2019-08

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 30568311
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_404.pdf
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Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Npj Genomic Medicine
Mak, Christopher Cy CC; Leung, Gordon Kc GK; Mok, Gary Tk GT; Yeung, Kit San KS; Yang, Wanling W; Fung, Cheuk-Wing CW; Chan, Sophelia Hs SH; Lee, So-Lun SL; Lee, Ni-Chung NC; Pfundt, Rolph R; Lau, Yu-Lung YL; Chung, Brian Hy BH
Publication Date: 2018

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 30109123
Variant Present in the following documents:
  • 41525_2018_56_MOESM1_ESM.pdf
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Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics
Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R
Publication Date: 2018-07-06

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 29980210
Variant Present in the following documents:
  • 12920_2018_372_MOESM1_ESM.pdf
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The evolution of a series of behavioral traits is associated with autism-risk genes in cavefish.

Bmc Evolutionary Biology
Yoshizawa, Masato M; Settle, Alexander A; Hermosura, Meredith C MC; Tuttle, Lillian J LJ; Cetraro, Nicolas N; Passow, Courtney N CN; McGaugh, Suzanne E SE
Publication Date: 2018-06-18

Variant appearance in text: PACS1: Arg203Trp
PubMed Link: 29909776
Variant Present in the following documents:
  • 12862_2018_1199_MOESM1_ESM.xlsx, sheet 2
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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

American Journal Of Human Genetics
Olson, Heather E HE; Jean-Marçais, Nolwenn N; Yang, Edward E; Heron, Delphine D; Tatton-Brown, Katrina K; van der Zwaag, Paul A PA; Bijlsma, Emilia K EK; Krock, Bryan L BL; Backer, E E; Kamsteeg, Erik-Jan EJ; Sinnema, Margje M; Reijnders, Margot R F MRF; Bearden, David D; Begtrup, Amber A; Telegrafi, Aida A; Lunsing, Roelineke J RJ; Burglen, Lydie L; Lesca, Gaetan G; Cho, Megan T MT; Smith, Lacey A LA; Sheidley, Beth R BR; Moufawad El Achkar, Christelle C; Pearl, Phillip L PL; Poduri, Annapurna A; Skraban, Cara M CM; Tarpinian, Jennifer J; Nesbitt, Addie I AI; Fransen van de Putte, Dietje E DE; Ruivenkamp, Claudia A L CAL; Rump, Patrick P; Chatron, Nicolas N; Sabatier, Isabelle I; De Bellescize, Julitta J; Guibaud, Laurent L; Sweetser, David A DA; Waxler, Jessica L JL; Wierenga, Klaas J KJ; , ; Donadieu, Jean J; Narayanan, Vinodh V; Ramsey, Keri M KM; , ; Nava, Caroline C; Rivière, Jean-Baptiste JB; Vitobello, Antonio A; Tran Mau-Them, Frédéric F; Philippe, Christophe C; Bruel, Ange-Line AL; Duffourd, Yannis Y; Thomas, Laurel L; Lelieveld, Stefan H SH; Schuurs-Hoeijmakers, Janneke J; Brunner, Han G HG; Keren, Boris B; Thevenon, Julien J; Faivre, Laurence L; Thomas, Gary G; Thauvin-Robinet, Christel C
Publication Date: 2018-05-03

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 29656858
Variant Present in the following documents:
  • Main text
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Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.

Scientific Reports
Lin, Chun-Yen CY; Chang, Kai-Wei KW; Lin, Chia-Yi CY; Wu, Jia-Ying JY; Coon, Hilary H; Huang, Pei-Hsin PH; Ho, Hong-Nerng HN; Akbarian, Schahram S; Gau, Susan Shur-Fen SS; Huang, Hsien-Sung HS
Publication Date: 2018-03-09

Variant appearance in text: PACS1: Arg203Trp
PubMed Link: 29523860
Variant Present in the following documents:
  • 41598_2018_22753_MOESM11_ESM.xlsx, sheet 1
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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Nature Communications
Reijnders, M R F MRF; Kousi, M M; van Woerden, G M GM; Klein, M M; Bralten, J J; Mancini, G M S GMS; van Essen, T T; Proietti-Onori, M M; Smeets, E E J EEJ; van Gastel, M M; Stegmann, A P A APA; Stevens, S J C SJC; Lelieveld, S H SH; Gilissen, C C; Pfundt, R R; Tan, P L PL; Kleefstra, T T; Franke, B B; Elgersma, Y Y; Katsanis, N N; Brunner, H G HG
Publication Date: 2017-10-20

Variant appearance in text: PACS1: 607C>T; R203W
PubMed Link: 29051493
Variant Present in the following documents:
  • 41467_2017_933_MOESM5_ESM.xlsx, sheet 1
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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PACS1: 607C>T; Arg203Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page