Property Summary

NCBI Gene PubMed Count 18
PubMed Score 0.00
PubTator Score 26.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell -1.200 0.000
ovarian cancer 2.800 0.000

Gene RIF (9)

PMID Text
27349085 Genetic analysis for WDR45 revealed that she had a splice site mutation
27349079 It is an autophagy gene and its mutation causes SENDA/BPAN(beta-propeller protein associated neurodegeneration). (review)
26481852 WDR45 mutation is associated with beta-propeller protein-associated neurodegeneration.
25592411 C19orf12 mutations were confirmed in our heterogeneous NBIA cohort, while WDR45 mutations appear to be restricted to the subtype showing encephalopathy in childhood with neurodegeneration in adulthood.
25263061 An observed mutation of WDR45 (c.C868T:p.Q290X) seems to cause beta-propeller protein-associated neurodegeneration.
24368176 Mutations in WDR45 were associated with neurodegeneration with brain iron accumulation and neuropsychiatric syndromes.
23687123 Mutations in WDR45 are associated with brain iron accumulation and X-linked disorders of neurodegeneration.
23435086 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
23176820 we have identified mutations in WDR45 as a cause of a distinctive X-linked dominant form of neurodegeneration with brain iron accumulation (NBIA)

AA Sequence

MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGS      1 - 70
SPKFSEISVLIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDT     71 - 140
RDNPKGLCDLCPSLEKQLLVFPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASA    141 - 210
SQKGTLIRLFDTQSKEKLVELRRGTDPATLYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARV    211 - 280
GKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKNVNSVIAICVDGTFHKYVFTPDGNCNREAFDV    281 - 350
YLDICDDDDF                                                                351 - 360
//

Text Mined References (17)

PMID Year Title
27349085 2016 [A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].
27349079 2016 [De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].
26481852 2016 Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
25263061 2014 Early manifestations of BPAN in a pediatric patient.
24368176 2014 Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.
23687123 2013 ?-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
15772651 2005 The DNA sequence of the human X chromosome.
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