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: 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: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		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: rs886041382
rs886041382
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395 2017
dbSNP: rs886041382
rs886041382
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
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: 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: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		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: rs886041382
rs886041382
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 26173968 2016
dbSNP: rs886041382
rs886041382
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
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: 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