WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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 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 		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 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012