WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797046101
rs797046101
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0557874
Disease:
Global developmental delay 		0.010 GeneticVariation BEFREE Whole-exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease-causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. 26609730 2015
dbSNP: rs797046101
rs797046101
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE Whole-exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease-causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. 26609730 2015
dbSNP: rs797046101
rs797046101
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C1527366
Disease:
Salaam Seizures 		0.010 GeneticVariation BEFREE Whole-exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease-causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. 26609730 2015
dbSNP: rs1057519622
rs1057519622
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519622
rs1057519622
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557083830
rs1557083830
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557083878
rs1557083878
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		TGG 0.700 GeneticVariation CLINVAR
dbSNP: rs1557083958
rs1557083958
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 CausalMutation CLINVAR High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. 25744623 2015
dbSNP: rs1557083958
rs1557083958
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		G 0.700 CausalMutation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
dbSNP: rs1557083958
rs1557083958
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 CausalMutation CLINVAR Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration. 28711740 2017
dbSNP: rs1557083958
rs1557083958
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 CausalMutation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
dbSNP: rs1557083958
rs1557083958
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 CausalMutation CLINVAR Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. 24368176 2014
dbSNP: rs1557083958
rs1557083958
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 CausalMutation CLINVAR De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. 24621584 2014
dbSNP: rs1557083958
rs1557083958
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		G 0.700 CausalMutation CLINVAR High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. 25744623 2015
dbSNP: rs1557083958
rs1557083958
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		G 0.700 CausalMutation CLINVAR Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. 24368176 2014
dbSNP: rs1557084113
rs1557084113
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395 2017
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. 24621584 2014
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 23435086 2013
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms. 24847269 2014
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. 24621584 2014
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms. 24847269 2014
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 26173968 2016