Variant: rs387907329 

    present in Gene: WDR45;PRAF2
    present in Chromosome: X
    Position on Chromosome: 49075573
    Alleles of this Variant: G/A;T

rs387907329 in WDR45;PRAF2 gene and Dysmorphic features PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

rs387907329 in WDR45;PRAF2 gene and Multiple congenital anomalies PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

rs387907329 in WDR45;PRAF2 gene and Muscle hypotonia PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

rs387907329 in WDR45;PRAF2 gene and NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 29171013 2018 Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

PMID 29981852 2019 Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.