PRAF2, PRA1 domain family member 2, 11230

N. diseases: 15; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 CausalMutation CLINVAR Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants. 29981852 2019
dbSNP: rs782557596
rs782557596
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		C 0.700 CausalMutation CLINVAR A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis. 30612247 2019
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 CausalMutation CLINVAR Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. 29171013 2018
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: 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 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395 2017
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 CausalMutation CLINVAR Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395 2017
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395 2017
dbSNP: rs387907329
rs387907329
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: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0000772
Disease:
Multiple congenital anomalies 		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 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 26173968 2016
dbSNP: rs1557084120
rs1557084120
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 26173968 2016
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 26173968 2016
dbSNP: rs387907329
rs387907329
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
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 26173968 2016
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 High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. 25744623 2015
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 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
dbSNP: rs387907329
rs387907329
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: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
dbSNP: rs797046102
rs797046102
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 		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