Variant: rs398123009 

    present in Gene: PACS1
    present in Chromosome: 11
    Position on Chromosome: 66211206
    Alleles of this Variant: C/T

rs398123009 in PACS1 gene and Dysmorphic features PMID 25522177 2015 Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

PMID 28975623 2018 A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

PMID 26842493 2016 Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

PMID 23159249 2012 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

PMID 9695949 1998 PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.

PMID 28111752 2017 Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

rs398123009 in PACS1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 PMID 23159249 2012 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs398123009 in PACS1 gene and Multiple congenital anomalies PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs398123009 in PACS1 gene and Muscle hypotonia PMID 23159249 2012 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

PMID 25522177 2015 Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

PMID 28975623 2018 A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

PMID 9695949 1998 PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.

PMID 28111752 2017 Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

PMID 26842493 2016 Clinical delineation of the PACS1-related syndrome--Report on 19 patients.