Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000211586 | SCV000845291 | pathogenic | Gillessen-Kaesbach-Nishimura syndrome | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003390836 | SCV004133296 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | ALG9: PM2, PP3 |
Clinical Genetics and Genomics, |
RCV000170339 | SCV000195551 | pathogenic | Gillessen-Kaesbach-Nishimura dysplasia | 2014-11-24 | no assertion criteria provided | clinical testing | We observed a novel phenotype, characterized by skeletal dysplasia and visceral malformations, and propose the name Gilessen-Kaesbach-Nishimura dysplasia for this severe form of congenital disorder glycosylation. Gilessen-Kaesbach-Nishimura dysplasia phenotype is at the most severe end of the CDG1L spectrum (lethal). |
OMIM | RCV000211586 | SCV000268527 | pathogenic | Gillessen-Kaesbach-Nishimura syndrome | 2015-05-13 | no assertion criteria provided | literature only |